@article {pmid29574847,
year = {2018},
author = {Weiss, KM},
title = {The tales genes tell (or not): A century of exploration.},
journal = {American journal of physical anthropology},
volume = {165},
number = {4},
pages = {741-753},
doi = {10.1002/ajpa.23333},
pmid = {29574847},
issn = {1096-8644},
mesh = {Animals ; Anthropology, Physical/*history ; *Evolution, Molecular ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Models, Biological ; Primates ; },
}

Animals
Anthropology, Physical/*history
*Evolution, Molecular
Genetics/*history
History, 20th Century
History, 21st Century
Humans
Models, Biological
Primates

@article {pmid29574830,
year = {2018},
author = {Szathmáry, EJE and Zegura, SL and Hammer, MF},
title = {Exceeding Hrdlička's aims: 100 Years of genetics in anthropology.},
journal = {American journal of physical anthropology},
volume = {165},
number = {4},
pages = {754-776},
doi = {10.1002/ajpa.23406},
pmid = {29574830},
issn = {1096-8644},
mesh = {Americas ; *Anthropology, Physical/history/organization & administration ; Evolution, Molecular ; Gene Flow ; Genetic Markers ; Genetic Research/history ; Genetics, Population/*history ; Genomics ; History, 20th Century ; History, 21st Century ; Humans ; },
}

Americas
*Anthropology, Physical/history/organization & administration
Evolution, Molecular
Gene Flow
Genetic Markers
Genetic Research/history
Genetics, Population/*history
Genomics
History, 20th Century
History, 21st Century
Humans

@article {pmid30338423,
year = {2018},
author = {Rajagopalan, RM and Fujimura, JH},
title = {Variations on a Chip: Technologies of Difference in Human Genetics Research.},
journal = {Journal of the history of biology},
volume = {51},
number = {4},
pages = {841-873},
pmid = {30338423},
issn = {1573-0387},
support = {R03HG005030/HG/NHGRI NIH HHS/United States ; R03HG006571/HG/NHGRI NIH HHS/United States ; 0621022//National Science Foundation/International ; },
mesh = {*Genetic Markers ; Genomics/*history ; History, 20th Century ; Human Genome Project/history ; Humans ; Oligonucleotide Array Sequence Analysis/*history ; *Polymorphism, Single Nucleotide ; },
abstract = {In this article we examine the history of the production of microarray technologies and their role in constructing and operationalizing views of human genetic difference in contemporary genomics. Rather than the "turn to difference" emerging as a post-Human Genome Project (HGP) phenomenon, interest in individual and group differences was a central, motivating concept in human genetics throughout the twentieth century. This interest was entwined with efforts to develop polymorphic "genetic markers" for studying human traits and diseases. We trace the technological, methodological and conceptual strategies in the late twentieth century that established single nucleotide polymorphisms (SNPs) as key focal points for locating difference in the genome. By embedding SNPs in microarrays, researchers created a technology that they used to catalog and assess human genetic variation. In the process of making genetic markers and array-based technologies to track variation, scientists also made commitments to ways of describing, cataloging and "knowing" human genetic differences that refracted difference through a continental geographic lens. We show how difference came to matter in both senses of the term: difference was made salient to, and inscribed on, genetic matter(s), as a result of the decisions, assessments and choices of collaborative and hybrid research collectives in medical genomics research.},
}

*Genetic Markers
Genomics/*history
History, 20th Century
Human Genome Project/history
Humans
Oligonucleotide Array Sequence Analysis/*history
*Polymorphism, Single Nucleotide

@article {pmid30355135,
year = {2018},
author = {Ince, S},
title = {Roger J. Hajjar.},
journal = {Circulation research},
volume = {123},
number = {5},
pages = {524-527},
doi = {10.1161/CIRCRESAHA.118.313728},
pmid = {30355135},
issn = {1524-4571},
mesh = {Biomedical Engineering/*history ; Cardiology/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Regenerative Medicine/*history ; },
}

Biomedical Engineering/*history
Cardiology/*history
History, 20th Century
History, 21st Century
Molecular Biology/*history
Regenerative Medicine/*history

@article {pmid30026375,
year = {2018},
author = {Goldberg-Smith, P},
title = {David M. Ryba: Pushing the Field Forward.},
journal = {Circulation research},
volume = {123},
number = {3},
pages = {318-319},
doi = {10.1161/CIRCRESAHA.118.313597},
pmid = {30026375},
issn = {1524-4571},
mesh = {Cardiovascular Physiological Phenomena ; Education, Professional ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Physiology/*history ; United States ; },
}

Cardiovascular Physiological Phenomena
Education, Professional
History, 20th Century
History, 21st Century
Molecular Biology/*history
Physiology/*history
United States

@article {pmid29769227,
year = {2018},
author = {Jan, LY and Jan, YN},
title = {Influences: Cold Spring Harbor summer courses and Drosophila melanogaster neurogenetics.},
journal = {The Journal of general physiology},
volume = {150},
number = {6},
pages = {773-775},
pmid = {29769227},
issn = {1540-7748},
mesh = {Animals ; Drosophila melanogaster ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Neurosciences/*history ; Potassium Channels/genetics/metabolism ; Taiwan ; United States ; },
}

Animals
Drosophila melanogaster
Genetics/*history
History, 20th Century
History, 21st Century
Neurosciences/*history
Potassium Channels/genetics/metabolism
Taiwan
United States

@article {pmid29512888,
year = {2018},
author = {Stoll, K and Kubendran, S and Cohen, SA},
title = {The past, present and future of service delivery in genetic counseling: Keeping up in the era of precision medicine.},
journal = {American journal of medical genetics. Part C, Seminars in medical genetics},
volume = {178},
number = {1},
pages = {24-37},
doi = {10.1002/ajmg.c.31602},
pmid = {29512888},
issn = {1552-4876},
mesh = {*Counselors ; Genetic Counseling/history/*methods/trends ; Genetics, Medical ; Health Workforce ; History, 20th Century ; History, 21st Century ; Humans ; Neoplasms/genetics ; Precision Medicine ; Referral and Consultation ; },
abstract = {Precision medicine aims to approach disease treatment and prevention with consideration of the variability in genes, environment, and lifestyle for each person. This focus on the individual is also key to the practice of genetic counseling, whereby foundational professional values prioritize informed and autonomous patient decisions regarding their genetic health. Genetic counselors are ideally suited to help realize the goals of the precision medicine. However, a limited genetic counseling workforce at a time in which there is a rapidly growing need for services is challenging the balance of supply and demand. This article provides historical context to better understand what has informed traditional models of genetic counseling and considers some of the current forces that require genetic counselors to adapt their practice. New service delivery models can improve access to genetic healthcare by overcoming geographical barriers, allowing genetic counselors to see a higher volume of patients and supporting other healthcare providers to better provide genetic services to meet the needs of their patients. Approaches to genetic counseling service delivery are considered with a forward focus to the challenges and opportunities that lie ahead for genetic counselors in this age of precision health.},
}

*Counselors
Genetic Counseling/history/*methods/trends
Genetics, Medical
Health Workforce
History, 20th Century
History, 21st Century
Humans
Neoplasms/genetics
Precision Medicine
Referral and Consultation

@article {pmid30571458,
year = {2018},
author = {Sallam, T},
title = {Stephen G. Young.},
journal = {Circulation research},
volume = {123},
number = {11},
pages = {1192-1195},
doi = {10.1161/CIRCRESAHA.118.314236},
pmid = {30571458},
issn = {1524-4571},
mesh = {Biomedical Research/ethics/standards ; Cardiology/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; United States ; },
}

Biomedical Research/ethics/standards
Cardiology/*history
History, 20th Century
History, 21st Century
Molecular Biology/*history
United States

@article {pmid30359186,
year = {2018},
author = {Goldberg-Smith, P},
title = {Lisa Dorn.},
journal = {Circulation research},
volume = {123},
number = {10},
pages = {1115-1117},
doi = {10.1161/CIRCRESAHA.118.314188},
pmid = {30359186},
issn = {1524-4571},
mesh = {*Awards and Prizes ; Cardiology/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; },
}

*Awards and Prizes
Cardiology/*history
History, 20th Century
History, 21st Century
Molecular Biology/*history

@article {pmid30266658,
year = {2018},
author = {Scherrer, K},
title = {Primary transcripts: From the discovery of RNA processing to current concepts of gene expression - Review.},
journal = {Experimental cell research},
volume = {373},
number = {1-2},
pages = {1-33},
doi = {10.1016/j.yexcr.2018.09.011},
pmid = {30266658},
issn = {1090-2422},
mesh = {Cell Nucleus/genetics ; Gene Expression ; *Gene Expression Regulation ; Genetics/history ; Genome ; History, 20th Century ; History, 21st Century ; Nuclear Matrix/chemistry ; RNA Processing, Post-Transcriptional ; Transcription, Genetic ; },
abstract = {The main purpose of this review is to recall for investigators - and in particular students -, some of the early data and concepts in molecular genetics and biology that are rarely cited in the current literature and are thus invariably overlooked. There is a growing tendency among editors and reviewers to consider that only data produced in the last 10-20 years or so are pertinent. However this is not the case. In exact science, sound data and lucid interpretation never become obsolete, and even if forgotten, will resurface sooner or later. In the field of gene expression, covered in the present review, recent post-genomic data have indeed confirmed many of the earlier results and concepts developed in the mid-seventies, well before the start of the recombinant DNA revolution. Human brains and even the most powerful computers, have difficulty in handling and making sense of the overwhelming flow of data generated by recent high-throughput technologies. This was easier when low throughput, more integrative methods based on biochemistry and microscopy dominated biological research. Nowadays, the need for organising concepts is ever more important, otherwise the mass of available data can generate only "building ruins" - the bricks without an architect. Concepts such as pervasive transcription of genomes, large genomic domains, full domain transcripts (FDTs) up to 100 kb long, the prevalence of post-transcriptional events in regulating eukaryotic gene expression, and the 3D-genome architecture, were all developed and discussed before 1990, and are only now coming back into vogue. Thus, to review the impact of earlier concepts on later developments in the field, I will confront former and current data and ideas, including a discussion of old and new methods. Whenever useful, I shall first briefly report post-genomic developments before addressing former results and interpretations. Equally important, some of the terms often used sloppily in scientific discussions will be clearly defined. As a basis for the ensuing discussion, some of the issues and facts related to eukaryotic gene expression will first be introduced. In chapter 2 the evolution in perception of biology over the last 60 years and the impact of the recombinant DNA revolution will be considered. Then, in chapter 3 data and theory concerning the genome, gene expression and genetics will be reviewed. The experimental and theoretical definition of the gene will be discussed before considering the 3 different types of genetic information - the "Triad" - and the importance of post-transcriptional regulation of gene expression in the light of the recent finding that 90% of genomic DNA seems to be transcribed. Some previous attempts to provide a conceptual framework for these observations will be recalled, in particular the "Cascade Regulation Hypothesis" (CRH) developed in 1967-85, and the "Gene and Genon" concept proposed in 2007. A knowledge of the size of primary transcripts is of prime importance, both for experimental and theoretical reasons, since these molecules represent the primary units of the "RNA genome" on which most of the post-transcriptional regulation of gene expression occurs. In chapter 4, I will first discuss some current post-genomic topics before summarising the discovery of the high Mr-RNA transcripts, and the investigation of their processing spanning the last 50 years. Since even today, a consensus concerning the real form of primary transcripts in eukaryotic cells has not yet been reached, I will refer to the viral and specialized cellular models which helped early on to understand the mechanisms of RNA processing and differential splicing which operate in cells and tissues. As a well-studied example of expression and regulation of a specific cellular gene in relation to differentiation and pathology, I will discuss the early and recent work on expression of the globin genes in nucleated avian erythroblasts. An important concept is that the primary transcript not only embodies protein-coding information and regulation of its expression, but also the 3D-structure of the genomic DNA from which it was derived. The wealth of recent post-genomic data published in this field emphasises the importance of a fundamental principle of genome organisation and expression that has been overlooked for years even though it was already discussed in the 1970-80ties. These issues are addressed in chapter 5 which focuses on the involvement of the nuclear matrix and nuclear architecture in DNA and RNA biology. This section will make reference to the Unified Matrix Hypothesis (UMH), which was the first molecular model of the 3D organisation of DNA and RNA. The chapter on the "RNA-genome and peripheral memories" discusses experimental data on the ribonucleoprotein complexes containing pre-mRNA (pre-mRNPs) and mRNA (mRNPs) which are organised in nuclear and cytoplasmic spaces respectively. Finally, "Outlook " will enumerate currently unresolved questions in the field, and will propose some ideas that may encourage further investigation, and comprehension of available experimental data still in need of interpretation. In chapter 8, some propositions and paradigms basic to the authors own analysis are discussed. "In conclusion" the raison d'être of this review is recalled and positioned within the overall framework of scientific endeavour.},
}

Cell Nucleus/genetics
Gene Expression
*Gene Expression Regulation
Genetics/history
Genome
History, 20th Century
History, 21st Century
Nuclear Matrix/chemistry
RNA Processing, Post-Transcriptional
Transcription, Genetic

@article {pmid31238325,
year = {2019},
author = {Haaf, T and Nanda, I},
title = {A Note from the New Editor.},
journal = {Cytogenetic and genome research},
volume = {158},
number = {2},
pages = {55},
doi = {10.1159/000501440},
pmid = {31238325},
issn = {1424-859X},
mesh = {Animals ; *Cytogenetics/history/standards/trends ; History, 20th Century ; History, 21st Century ; Humans ; Periodicals as Topic/history/standards/*trends ; },
}

Animals
*Cytogenetics/history/standards/trends
History, 20th Century
History, 21st Century
Humans
Periodicals as Topic/history/standards/*trends

@article {pmid29614285,
year = {2018},
author = {Goldstein, B},
title = {On Francis Crick, the genetic code, and a clever kid.},
journal = {Current biology : CB},
volume = {28},
number = {7},
pages = {R305},
doi = {10.1016/j.cub.2018.02.058},
pmid = {29614285},
issn = {1879-0445},
mesh = {Evolution, Molecular ; Genes/*physiology ; *Genetic Code ; History, 20th Century ; Humans ; Models, Biological ; Molecular Biology/*history ; },
abstract = {A few years ago, Francis Crick's son told me a story that I can't get out of my mind. I had contacted Michael Crick by email while digging through the background of the researchers who had cracked the genetic code in the 1960s. Francis had died in 2004, and I was contacting some of the people who knew him when he was struggling to decipher the code. Francis didn't appear to struggle often - he is known mostly for his successes - and, as it turns out, this one well-known struggle may have had a clue sitting just barely out of sight.},
}

Evolution, Molecular
Genes/*physiology
*Genetic Code
History, 20th Century
Humans
Models, Biological
Molecular Biology/*history

@article {pmid30108194,
year = {2018},
author = {Neill, US},
title = {A conversation with Cornelia Bargmann.},
journal = {The Journal of clinical investigation},
volume = {128},
number = {7},
pages = {2655-2656},
doi = {10.1172/JCI122804},
pmid = {30108194},
issn = {1558-8238},
mesh = {Animals ; Caenorhabditis elegans/genetics/physiology ; Genetics, Behavioral/history ; History, 20th Century ; History, 21st Century ; Humans ; Neurosciences/*history ; Organizations ; United States ; },
}

Animals
Caenorhabditis elegans/genetics/physiology
Genetics, Behavioral/history
History, 20th Century
History, 21st Century
Humans
Neurosciences/*history
Organizations
United States

@article {pmid30199851,
year = {2018},
author = {Jackson, S},
title = {RNA biologist Joan Steitz awarded the 2018 Lasker~Koshland Special Achievement prize.},
journal = {The Journal of clinical investigation},
volume = {128},
number = {10},
pages = {4195-4197},
pmid = {30199851},
issn = {1558-8238},
mesh = {Animals ; *Awards and Prizes ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Portraits as Topic ; RNA Splicing/*physiology ; RNA, Messenger/*physiology ; },
}

Animals
*Awards and Prizes
History, 20th Century
History, 21st Century
Humans
Molecular Biology/*history
Portraits as Topic
RNA Splicing/*physiology
RNA, Messenger/*physiology

@article {pmid28950406,
year = {2018},
author = {Harel, T and Lupski, JR},
title = {Genomic disorders 20 years on-mechanisms for clinical manifestations.},
journal = {Clinical genetics},
volume = {93},
number = {3},
pages = {439-449},
doi = {10.1111/cge.13146},
pmid = {28950406},
issn = {1399-0004},
mesh = {DNA Copy Number Variations ; *Genetic Association Studies ; Genetic Diseases, Inborn/diagnosis/*genetics ; Genetic Predisposition to Disease ; Genetic Testing ; Genetic Variation ; Genome, Human ; Genomic Instability ; *Genomics/history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Phenotype ; },
abstract = {Genomic disorders result from copy-number variants (CNVs) or submicroscopic rearrangements of the genome rather than from single nucleotide variants (SNVs). Diverse technologies, including array comparative genomic hybridization (aCGH) and single nucleotide polymorphism (SNP) microarrays, and more recently, whole genome sequencing and whole-exome sequencing, have enabled robust genome-wide unbiased detection of CNVs in affected individuals and in reportedly healthy controls. Sequencing of breakpoint junctions has allowed for elucidation of upstream mechanisms leading to genomic instability and resultant structural variation, whereas studies of the association between CNVs and specific diseases or susceptibility to morbid traits have enhanced our understanding of the downstream effects. In this review, we discuss the hallmarks of genomic disorders as they were defined during the first decade of the field, including genomic instability and the mechanism for rearrangement defined as nonallelic homologous recombination (NAHR); recurrent vs nonrecurrent rearrangements; and gene dosage sensitivity. Moreover, we highlight the exciting advances of the second decade of this field, including a deeper understanding of genomic instability and the mechanisms underlying complex rearrangements, mechanisms for constitutional and somatic chromosomal rearrangements, structural intra-species polymorphisms and susceptibility to NAHR, the role of CNVs in the context of genome-wide copy number and single nucleotide variation, and the contribution of noncoding CNVs to human disease.},
}

DNA Copy Number Variations
*Genetic Association Studies
Genetic Diseases, Inborn/diagnosis/*genetics
Genetic Predisposition to Disease
Genetic Testing
Genetic Variation
Genome, Human
Genomic Instability
*Genomics/history/methods
History, 20th Century
History, 21st Century
Humans
Phenotype

@article {pmid29650627,
year = {2018},
author = {Williams, R},
title = {Rajat Gupta: A Scientist in Doctor's Clothing.},
journal = {Circulation research},
volume = {122},
number = {8},
pages = {1044-1045},
doi = {10.1161/CIRCRESAHA.118.313077},
pmid = {29650627},
issn = {1524-4571},
mesh = {Boston ; Cardiology/*history ; Coronary Disease/genetics/history ; Cytokines/history ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Michigan ; },
}

Boston
Cardiology/*history
Coronary Disease/genetics/history
Cytokines/history
Genetics, Medical/*history
History, 20th Century
History, 21st Century
Humans
Michigan

@article {pmid30482271,
year = {2018},
author = {Xue, Y and Zhang, Y},
title = {Highlights of genetics research over the past four decades in China.},
journal = {Journal of genetics and genomics = Yi chuan xue bao},
volume = {45},
number = {11},
pages = {561-562},
doi = {10.1016/j.jgg.2018.11.001},
pmid = {30482271},
issn = {1673-8527},
mesh = {Animals ; China ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Research/*history ; },
}

Animals
China
Genetics/*history
History, 20th Century
History, 21st Century
Humans
Research/*history

@article {pmid30459119,
year = {2018},
author = {Cai, L and Zheng, LA and He, L},
title = {The forty years of medical genetics in China.},
journal = {Journal of genetics and genomics = Yi chuan xue bao},
volume = {45},
number = {11},
pages = {569-582},
doi = {10.1016/j.jgg.2018.10.001},
pmid = {30459119},
issn = {1673-8527},
mesh = {Asian Continental Ancestry Group/genetics ; Biomedical Research/history/organization & administration ; China ; Genetic Diseases, Inborn/*genetics/history ; Genetics, Medical/*history/organization & administration ; History, 20th Century ; History, 21st Century ; Humans ; },
abstract = {Medical genetics is the newest cutting-edge discipline that focuses on solving medical problems using genetics knowledge and methods. In China, medical genetics research activities initiated from a poor inner basis but a prosperous outer environment. During the 40 years of reform and opening-up policy, Chinese scientists contributed significantly in the field of medical genetics, garnering considerable attention worldwide. In this review, we highlight the significant findings and/or results discovered by Chinese scientists in monogenic diseases, complex diseases, cancer, genetic diagnosis, as well as gene manipulation and gene therapy. Due to these achievements, China is widely recognized to be at the forefront of medical genetics research and development. However, the significant progress and development that has been achieved could not have been accomplished without sufficient funding and a well-constructed logistics network. The successful implementation of translational and precise medicine sourced from medical genetics will depend on an open ethics policy and intellectual property protection, along with strong support at the national industry level.},
}

Asian Continental Ancestry Group/genetics
Biomedical Research/history/organization & administration
China
Genetic Diseases, Inborn/*genetics/history
Genetics, Medical/*history/organization & administration
History, 20th Century
History, 21st Century
Humans

@article {pmid30455036,
year = {2018},
author = {Duan, CG and Zhu, JK and Cao, X},
title = {Retrospective and perspective of plant epigenetics in China.},
journal = {Journal of genetics and genomics = Yi chuan xue bao},
volume = {45},
number = {11},
pages = {621-638},
doi = {10.1016/j.jgg.2018.09.004},
pmid = {30455036},
issn = {1673-8527},
mesh = {DNA Methylation ; *Epigenesis, Genetic ; Epigenomics/*history ; Gene Expression Regulation, Plant ; Histones/genetics/metabolism ; History, 20th Century ; History, 21st Century ; Plant Proteins/genetics/metabolism ; Plants/*genetics/metabolism ; },
abstract = {Epigenetics refers to the study of heritable changes in gene function that do not involve changes in the DNA sequence. Such effects on cellular and physiological phenotypic traits may result from external or environmental factors or be part of normal developmental program. In eukaryotes, DNA wraps on a histone octamer (two copies of H2A, H2B, H3 and H4) to form nucleosome, the fundamental unit of chromatin. The structure of chromatin is subjected to a dynamic regulation through multiple epigenetic mechanisms, including DNA methylation, histone posttranslational modifications (PTMs), chromatin remodeling and noncoding RNAs. As conserved regulatory mechanisms in gene expression, epigenetic mechanisms participate in almost all the important biological processes ranging from basal development to environmental response. Importantly, all of the major epigenetic mechanisms in mammalians also occur in plants. Plant studies have provided numerous important contributions to the epigenetic research. For example, gene imprinting, a mechanism of parental allele-specific gene expression, was firstly observed in maize; evidence of paramutation, an epigenetic phenomenon that one allele acts in a single locus to induce a heritable change in the other allele, was firstly reported in maize and tomato. Moreover, some unique epigenetic mechanisms have been evolved in plants. For example, the 24-nt siRNA-involved RNA-directed DNA methylation (RdDM) pathway is plant-specific because of the involvements of two plant-specific DNA-dependent RNA polymerases, Pol IV and Pol V. A thorough study of epigenetic mechanisms is of great significance to improve crop agronomic traits and environmental adaptability. In this review, we make a brief summary of important progress achieved in plant epigenetics field in China over the past several decades and give a brief outlook on future research prospects. We focus our review on DNA methylation and histone PTMs, the two most important aspects of epigenetic mechanisms.},
}

DNA Methylation
*Epigenesis, Genetic
Epigenomics/*history
Gene Expression Regulation, Plant
Histones/genetics/metabolism
History, 20th Century
History, 21st Century
Plant Proteins/genetics/metabolism
Plants/*genetics/metabolism

@article {pmid29596172,
year = {2018},
author = {Goulet, O and Phillips, A},
title = {Chapter 5.2.2. From the Syndrome of Intractable Diarrhoea of Infancy to Molecular Analysis and Cell Biology: 50 Years of Evolution.},
journal = {Journal of pediatric gastroenterology and nutrition},
volume = {66 Suppl 1},
number = {},
pages = {S77-S81},
doi = {10.1097/MPG.0000000000001915},
pmid = {29596172},
issn = {1536-4801},
mesh = {Anniversaries and Special Events ; Cell Biology/*history ; Child Nutrition Sciences/*history/organization & administration ; Diarrhea/*history ; Europe ; Gastroenterology/*history/organization & administration ; History, 20th Century ; History, 21st Century ; Humans ; Infant ; Molecular Medicine/*history ; Pediatrics/*history/organization & administration ; Societies, Medical/history ; Syndrome ; },
}

Anniversaries and Special Events
Cell Biology/*history
Child Nutrition Sciences/*history/organization & administration
Diarrhea/*history
Europe
Gastroenterology/*history/organization & administration
History, 20th Century
History, 21st Century
Humans
Infant
Molecular Medicine/*history
Pediatrics/*history/organization & administration
Societies, Medical/history
Syndrome

@article {pmid31402018,
year = {2019},
author = {Lane, R},
title = {Teri Manolio: steering genomics into clinical medicine.},
journal = {Lancet (London, England)},
volume = {394},
number = {10197},
pages = {462},
doi = {10.1016/S0140-6736(19)31682-4},
pmid = {31402018},
issn = {1474-547X},
mesh = {Female ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Epidemiology/*history ; National Human Genome Research Institute (U.S.) ; United States ; },
}

Female
Genomics/*history
History, 20th Century
History, 21st Century
Humans
Molecular Epidemiology/*history
National Human Genome Research Institute (U.S.)
United States

@article {pmid31057159,
year = {2019},
author = {O'Mahony, S},
title = {After the golden age: what is medicine for?.},
journal = {Lancet (London, England)},
volume = {393},
number = {10183},
pages = {1798-1799},
doi = {10.1016/S0140-6736(19)30901-8},
pmid = {31057159},
issn = {1474-547X},
mesh = {Epidemiology ; Evidence-Based Medicine ; Female ; *History of Medicine ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history ; Humans ; Longevity ; Medical Overuse/statistics & numerical data ; Medicine/*statistics & numerical data/trends ; Physicians/*history ; },
}

Epidemiology
Evidence-Based Medicine
Female
*History of Medicine
History, 19th Century
History, 20th Century
History, 21st Century
Human Genome Project/*history
Humans
Longevity
Medical Overuse/statistics & numerical data
Medicine/*statistics & numerical data/trends
Physicians/*history

@article {pmid31053614,
year = {2019},
author = {Borinskaya, SA and Ermolaev, AI and Kolchinsky, EI},
title = {Lysenkoism Against Genetics: The Meeting of the Lenin All-Union Academy of Agricultural Sciences of August 1948, Its Background, Causes, and Aftermath.},
journal = {Genetics},
volume = {212},
number = {1},
pages = {1-12},
doi = {10.1534/genetics.118.301413},
pmid = {31053614},
issn = {1943-2631},
mesh = {Animals ; *Biological Evolution ; Genetics/*history ; Heredity ; History, 20th Century ; Plants/genetics ; USSR ; },
abstract = {Progress in genetics and evolutionary biology in the young Union of Soviet Socialist Republics (USSR) was hindered in the 1930s by the agronomist Trofim Lysenko, who believed that acquired traits are inherited, claimed that heredity can be changed by "educating" plants, and denied the existence of genes. Lysenko was supported by Communist Party elites. Lysenko termed his set of ideas and agricultural techniques "Michurinism," after the name of the plant breeder Ivan Michurin, but they are currently known as Lysenkoism. Although Michurinism opposed biological science, Lysenko took up one academic position after another. In 1929, Nikolai Vavilov founded the Lenin All-Union Academy of Agricultural Sciences and became its head; it directed the development of sciences underpinning plant and animal breeding in the Soviet Union. Vavilov was dismissed in 1935 and later died in prison, while Lysenko occupied his position. The triumph of Lysenkoism became complete and genetics was fully defeated in August 1948 at a session of the academy headed by Lysenko. The session was personally directed by Joseph Stalin and marked the USSR's commitment to developing a national science, separated from the global scientific community. As a result, substantial losses occurred in Soviet agriculture, genetics, evolutionary theory, and molecular biology, and the transmission of scientific values and traditions between generations was interrupted. This article reviews the ideological, political, economic, social, cultural, personal, moral, and ethical factors that influenced the August 1948 session, and its immediate and later consequences. We also outline current attempts to revise the role of the August session and whitewash Lysenko.},
}

Animals
*Biological Evolution
Genetics/*history
Heredity
History, 20th Century
Plants/genetics
USSR

@article {pmid30967441,
year = {2019},
author = {Visscher, PM and Goddard, ME},
title = {From R.A. Fisher's 1918 Paper to GWAS a Century Later.},
journal = {Genetics},
volume = {211},
number = {4},
pages = {1125-1130},
doi = {10.1534/genetics.118.301594},
pmid = {30967441},
issn = {1943-2631},
mesh = {Animals ; Genetics/*history ; Genome-Wide Association Study/history/*methods ; History, 20th Century ; History, 21st Century ; Humans ; },
abstract = {The genetics and evolution of complex traits, including quantitative traits and disease, have been hotly debated ever since Darwin. A century ago, a paper from R.A. Fisher reconciled Mendelian and biometrical genetics in a landmark contribution that is now accepted as the main foundation stone of the field of quantitative genetics. Here, we give our perspective on Fisher's 1918 paper in the context of how and why it is relevant in today's genome era. We mostly focus on human trait variation, in part because Fisher did so too, but the conclusions are general and extend to other natural populations, and to populations undergoing artificial selection.},
}

Animals
Genetics/*history
Genome-Wide Association Study/history/*methods
History, 20th Century
History, 21st Century
Humans

@article {pmid30948031,
year = {2019},
author = {Cameron, RA},
title = {A personal history of the echinoderm genome sequencing.},
journal = {Methods in cell biology},
volume = {151},
number = {},
pages = {55-61},
doi = {10.1016/bs.mcb.2019.03.008},
pmid = {30948031},
issn = {0091-679X},
mesh = {Animals ; Chromosome Mapping ; Echinodermata/genetics ; Genome/*genetics ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Sea Urchins/*genetics ; },
abstract = {At the most fundamental level, the genome is the basis for questions about the mechanisms of development: how it works. This perspective provides a brief historical review of the sequencing of the echinoderm genome and the progress in answering this complex question, which depends on technological advances as well as intellectual ones.},
}

Animals
Chromosome Mapping
Echinodermata/genetics
Genome/*genetics
Genomics/*history
History, 20th Century
History, 21st Century
Sea Urchins/*genetics

@article {pmid30858322,
year = {2019},
author = {Azar, B},
title = {Profile of Daniel A. Haber.},
journal = {Proceedings of the National Academy of Sciences of the United States of America},
volume = {116},
number = {13},
pages = {5840-5842},
doi = {10.1073/pnas.1903223116},
pmid = {30858322},
issn = {1091-6490},
mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Massachusetts ; Medical Oncology/history ; United States ; },
}

Genetics, Medical/*history
History, 20th Century
History, 21st Century
Massachusetts
Medical Oncology/history
United States

@article {pmid30846543,
year = {2019},
author = {Strauss, BS},
title = {Martynas Yčas: The "Archivist" of the RNA Tie Club.},
journal = {Genetics},
volume = {211},
number = {3},
pages = {789-795},
doi = {10.1534/genetics.118.301754},
pmid = {30846543},
issn = {1943-2631},
mesh = {History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; RNA/chemistry/genetics/metabolism ; United States ; },
abstract = {Between about 1951 and the early 1960s, the basic structure of molecular biology was revealed. Central to our understanding was the unraveling of the various roles of RNA, culminating in the identification of messenger RNA (mRNA) and the deciphering of the genetic code. We know a great deal about the role of Brenner, Crick, Jacob, and Nirenberg in these discoveries, but many others played important supporting parts. One of these is a little-known scientist, Martynas Yčas, who appears in histories, generally without explanation, as the "archivist of the RNA Tie Club." Yčas was born in Lithuania. His father helped write the Lithuanian Constitution in 1919. He studied Roman Law and served in the Lithuanian army before escaping from the Russians in 1940. The records of correspondence of Yčas with the physicist George Gamow and with Francis Crick throw some light on the genesis of our understanding of the role of mRNA. The story of the "RNA Tie Club" illustrates the difficulty in assigning credit for important discoveries and underscores the importance of a free exchange of information, even (or especially) among competitors.},
}

History, 20th Century
History, 21st Century
Molecular Biology/*history
RNA/chemistry/genetics/metabolism
United States

@article {pmid30765511,
year = {2019},
author = {Frixione, E and Ruiz-Zamarripa, L},
title = {The "scientific catastrophe" in nucleic acids research that boosted molecular biology.},
journal = {The Journal of biological chemistry},
volume = {294},
number = {7},
pages = {2249-2255},
doi = {10.1074/jbc.CL119.007397},
pmid = {30765511},
issn = {1083-351X},
mesh = {Animals ; *DNA/chemistry/history/metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; *Nucleic Acid Conformation ; *RNA/chemistry/history/metabolism ; },
}

Animals
*DNA/chemistry/history/metabolism
History, 20th Century
History, 21st Century
Humans
Molecular Biology/*history
*Nucleic Acid Conformation
*RNA/chemistry/history/metabolism

@article {pmid30760854,
year = {2019},
author = {Shay, JW and Wright, WE},
title = {Telomeres and telomerase: three decades of progress.},
journal = {Nature reviews. Genetics},
volume = {20},
number = {5},
pages = {299-309},
doi = {10.1038/s41576-019-0099-1},
pmid = {30760854},
issn = {1471-0064},
mesh = {Abnormalities, Multiple/genetics/metabolism/pathology ; Aging/*genetics/metabolism ; Animals ; Cell Cycle Proteins/genetics/metabolism ; DNA/chemistry/genetics/metabolism ; Gene Expression Regulation ; Genomics/*history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Neoplasms/*genetics/metabolism/pathology ; Nuclear Proteins/genetics/metabolism ; Progeria/genetics/metabolism/pathology ; Ribonucleoproteins, Small Nuclear/genetics/metabolism ; Ribonucleoproteins, Small Nucleolar/genetics/metabolism ; Telomerase/*genetics/metabolism ; Telomere/*chemistry/metabolism ; Telomere Homeostasis ; Telomere-Binding Proteins/genetics/metabolism ; },
abstract = {Many recent advances have emerged in the telomere and telomerase fields. This Timeline article highlights the key advances that have expanded our views on the mechanistic underpinnings of telomeres and telomerase and their roles in ageing and disease. Three decades ago, the classic view was that telomeres protected the natural ends of linear chromosomes and that telomerase was a specific telomere-terminal transferase necessary for the replication of chromosome ends in single-celled organisms. While this concept is still correct, many diverse fields associated with telomeres and telomerase have substantially matured. These areas include the discovery of most of the key molecular components of telomerase, implications for limits to cellular replication, identification and characterization of human genetic disorders that result in premature telomere shortening, the concept that inhibiting telomerase might be a successful therapeutic strategy and roles for telomeres in regulating gene expression. We discuss progress in these areas and conclude with challenges and unanswered questions in the field.},
}

Abnormalities, Multiple/genetics/metabolism/pathology
Aging/*genetics/metabolism
Animals
Cell Cycle Proteins/genetics/metabolism
DNA/chemistry/genetics/metabolism
Gene Expression Regulation
Genomics/*history/methods
History, 20th Century
History, 21st Century
Humans
Neoplasms/*genetics/metabolism/pathology
Nuclear Proteins/genetics/metabolism
Progeria/genetics/metabolism/pathology
Ribonucleoproteins, Small Nuclear/genetics/metabolism
Ribonucleoproteins, Small Nucleolar/genetics/metabolism
Telomerase/*genetics/metabolism
Telomere/*chemistry/metabolism
Telomere Homeostasis
Telomere-Binding Proteins/genetics/metabolism

@article {pmid30733376,
year = {2019},
author = {Dung, SK and López, A and Barragan, EL and Reyes, RJ and Thu, R and Castellanos, E and Catalan, F and Huerta-Sánchez, E and Rohlfs, RV},
title = {Illuminating Women's Hidden Contribution to Historical Theoretical Population Genetics.},
journal = {Genetics},
volume = {211},
number = {2},
pages = {363-366},
doi = {10.1534/genetics.118.301277},
pmid = {30733376},
issn = {1943-2631},
support = {R35 GM128946/GM/NIGMS NIH HHS/United States ; UL1 GM118985/GM/NIGMS NIH HHS/United States ; },
mesh = {*Authorship ; Genetics, Population/*history ; History, 20th Century ; History, 21st Century ; Humans ; Periodicals as Topic/history/statistics & numerical data ; Sexism/history/*statistics & numerical data ; Women/*history ; },
abstract = {While productivity in academia is measured through authorship, not all scientific contributors have been recognized as authors. We consider nonauthor "acknowledged programmers" (APs), who developed, ran, and sometimes analyzed the results of computer programs. We identified APs in Theoretical Population Biology articles published between 1970 and 1990, finding that APs were disproportionately women (P = 4.0 × 10-10). We note recurrent APs who contributed to several highly-cited manuscripts. The occurrence of APs decreased over time, corresponding to the masculinization of computer programming and the shift of programming responsibilities to individuals credited as authors. We conclude that, while previously overlooked, historically, women have made substantial contributions to computational biology. For a video of this abstract, see: https://vimeo.com/313424402.},
}

*Authorship
Genetics, Population/*history
History, 20th Century
History, 21st Century
Humans
Periodicals as Topic/history/statistics & numerical data
Sexism/history/*statistics & numerical data
Women/*history

@article {pmid30728085,
year = {2019},
author = {Moniz, MBJ and Hutton, FG},
title = {Genetics Research turns a new [open access] leaf….},
journal = {Genetics research},
volume = {101},
number = {},
pages = {e1},
doi = {10.1017/S0016672318000071},
pmid = {30728085},
issn = {1469-5073},
mesh = {Access to Information/*history ; Genetics/history/*trends ; History, 20th Century ; History, 21st Century ; Research/trends ; },
}

Access to Information/*history
Genetics/history/*trends
History, 20th Century
History, 21st Century
Research/trends

@article {pmid30706092,
year = {2019},
author = {Kasahara, M and Flajnik, MF and Takahama, Y},
title = {Biology, evolution, and history of antigen processing and presentation: Immunogenetics special issue 2019.},
journal = {Immunogenetics},
volume = {71},
number = {3},
pages = {137-139},
doi = {10.1007/s00251-019-01107-y},
pmid = {30706092},
issn = {1432-1211},
support = {R56 AI140326/AI/NIAID NIH HHS/United States ; },
mesh = {Animals ; Antigen Presentation/*immunology ; History, 20th Century ; History, 21st Century ; Humans ; Immunogenetics/*history ; Major Histocompatibility Complex/*immunology ; },
}

Animals
Antigen Presentation/*immunology
History, 20th Century
History, 21st Century
Humans
Immunogenetics/*history
Major Histocompatibility Complex/*immunology

@article {pmid30679065,
year = {2019},
author = {Bonneuil, C},
title = {Seeing nature as a 'universal store of genes': How biological diversity became 'genetic resources', 1890-1940.},
journal = {Studies in history and philosophy of biological and biomedical sciences},
volume = {75},
number = {},
pages = {1-14},
doi = {10.1016/j.shpsc.2018.12.002},
pmid = {30679065},
issn = {1879-2499},
mesh = {Agriculture/*history ; *Biodiversity ; Biota/*genetics ; Colonialism ; Conservation of Natural Resources/*history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Politics ; Social Change ; },
abstract = {Till late in the 20th century, biological diversity has been understood and addressed in terms of "genetic resources". This paper proposes a history of this "genetic resources" concept and the biopolitical practices it was related to. A semantic history of the 'resource' idiom first sheds light on how, in the age of empires and fossil industrialism, the Earth came to be considered as a stock of static mineral and living reserves. Then we follow how the gene became the unit of this "resourcist" view of biological diversity as static stocks of entities open to prospection, harnessing and "conservation". Erwin Baur, Nikolai I. Vavilov, Aleksandr S. Serebrovsky and Hermann J. Muller were key biologists who introduced a spatial turn to the gene concept. Beyond the space-time of Neo-mendelian and Morganian laboratory genetics, genes became understood though a geographical gaze at a planetary scale. The world became a "universal store of genes" (Vavilov, 1929). From 1926 to World War 2, this advent of genes as new global epistemic objects went hand in hand with genes' new modes of existence as geopolitical objects. The article documents Interwar years' scramble for genes as well as first collaborative international efforts to conserve and exchange genetic material (which prefigured post WW2 initiatives), and situates the rise of the 'genetic resources' category within mid 20th century's imperialism, high-modernism, agricultural modernization and biopolitics.},
}

Agriculture/*history
*Biodiversity
Biota/*genetics
Colonialism
Conservation of Natural Resources/*history
Genetics/*history
History, 19th Century
History, 20th Century
Politics
Social Change

@article {pmid30661654,
year = {2019},
author = {Morganti, S and Tarantino, P and Ferraro, E and D'Amico, P and Viale, G and Trapani, D and Duso, BA and Curigliano, G},
title = {Complexity of genome sequencing and reporting: Next generation sequencing (NGS) technologies and implementation of precision medicine in real life.},
journal = {Critical reviews in oncology/hematology},
volume = {133},
number = {},
pages = {171-182},
doi = {10.1016/j.critrevonc.2018.11.008},
pmid = {30661654},
issn = {1879-0461},
mesh = {*Data Interpretation, Statistical ; Diagnostic Tests, Routine/history/methods/statistics & numerical data ; Disease Progression ; *Genomics/history/methods/standards ; *High-Throughput Nucleotide Sequencing/history/standards/statistics & numerical data ; History, 20th Century ; History, 21st Century ; Humans ; Mutation ; Neoplasms/diagnosis/*genetics/*therapy ; *Precision Medicine/history/methods/standards ; Research Design/standards ; },
abstract = {The finalization of the Human Genome Project in 2003 paved the way for a deeper understanding of cancer, favouring a faster progression towards "personalized" medicine. Research in oncology has progressively focused on the sequencing of cancer genomes, to better understand the genetic basis of tumorigenesis and identify actionable alterations to guide cancer therapy. Thanks to the development of next-generation-sequencing (NGS) techniques, sequencing of tumoral DNA is today technically easier, faster and cheaper. Commercially available NGS panels enable the detection of single or global genomic alterations, namely gene mutation and mutagenic burden, both on germline and somatic DNA, potentially predicting the response or resistance to cancer treatments. Profiling of tumor DNA is nowadays a standard in cancer research and treatment. In this review we discuss the history, techniques and applications of NGS in cancer care, under a "personalized tailored therapy" perspective.},
}

*Data Interpretation, Statistical
Diagnostic Tests, Routine/history/methods/statistics & numerical data
Disease Progression
*Genomics/history/methods/standards
*High-Throughput Nucleotide Sequencing/history/standards/statistics & numerical data
History, 20th Century
History, 21st Century
Humans
Mutation
Neoplasms/diagnosis/*genetics/*therapy
*Precision Medicine/history/methods/standards
Research Design/standards

@article {pmid30652837,
year = {2018},
author = {Barciszewski, J and Szymański, M and Malesa, A and Olszewska, D and Markiewicz, W and Barciszewski, J},
title = {[Origins of molecular life sciences. Polish context].},
journal = {Postepy biochemii},
volume = {64},
number = {1},
pages = {55-66},
doi = {10.18388/pb.2018_105},
pmid = {30652837},
issn = {0032-5422},
mesh = {Biological Science Disciplines/*history ; History, 20th Century ; Molecular Biology/*history ; Poland ; },
abstract = {Different scientific disciplines such as physics, genetics or biochemistry crossed over into molecular biology in the last century. The Polish state didn't existed at the beginning of XX century, but the territory for a large number of scientists was not a limitation in delineating new routes, making fundamental discoveries or training the new generation of distinguished people of sciences. We want to tell the story of roots of molecular biology from the Polish perspective and outline its importance, by bringing closer the most essential discoveries of elite scientists in different fields of life science, associated with Poland and its territory.},
}

Biological Science Disciplines/*history
History, 20th Century
Molecular Biology/*history
Poland

@article {pmid30639424,
year = {2019},
author = {Livi, GP},
title = {Halcyon days of TOR: Reflections on the multiple independent discovery of the yeast and mammalian TOR proteins.},
journal = {Gene},
volume = {692},
number = {},
pages = {145-155},
doi = {10.1016/j.gene.2018.12.046},
pmid = {30639424},
issn = {1879-0038},
mesh = {Animals ; Drug Resistance, Fungal/drug effects/genetics ; Fungal Proteins/genetics/metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Mammals ; Mechanistic Target of Rapamycin Complex 1/genetics/metabolism ; Mechanistic Target of Rapamycin Complex 2/genetics/metabolism ; Molecular Biology/*history ; Mutation ; Protein-Serine-Threonine Kinases/*genetics/metabolism ; Saccharomyces cerevisiae Proteins/*genetics/metabolism ; Sirolimus/pharmacology ; Structure-Activity Relationship ; TOR Serine-Threonine Kinases/chemistry/*metabolism ; Tacrolimus Binding Protein 1A/genetics/*metabolism ; },
abstract = {The quest to elucidate the molecular mechanism of action of rapamycin in the early 1990s led to the discovery of the novel TOR (target of rapamycin) proteins in yeast and mammalian cells. This was a major breakthrough that resulted in the development of new rapamycin analogs as anti-cancer agents, and launched new research that revealed the pre-eminent biological role of mTOR (mammalian or mechanistic TOR). Beyond mediating rapamycin sensitivity, the TOR proteins are nutrient sensing protein kinases, conserved from yeast to man, with a core function in regulating cell growth, metabolism and overall cell survival. There have been many insightful historical accounts of the origins of TOR; however, the complete TOR dossier would benefit from a chapter on the untold story of the simultaneous co-discovery of the yeast TOR proteins by two independent laboratories, one that is inclusive of the discoveries made at the former SmithKline Beecham (legacy GlaxoSmithKline). Accordingly, this comprehensive retrospective retraces the provenance of yeast TOR (circa 1990-1996) and highlights the early groundbreaking publications that revealed the identity of the TOR genes and proteins. It also commemorates key companion papers which helped to clarify yeast TOR gene nomenclature, identified structural motifs in the predicted TOR protein sequences, demonstrated interactions between yeast FKBP12-rapamycin and TOR, characterized mutations responsible for drug resistance, and began to decipher TOR protein function; some of these crucial early studies appeared in this journal (e.g., Koser et al., 1993. Gene 129, 159-165; Cafferkey et al., 1994. Gene 141, 133-136; Freeman and Livi, 1996. Gene 172, 143-147). A period of intensive investigation, events are portrayed chronologically and juxtaposed alongside the independent parallel efforts to identify and purify mTOR. Finally, in a broader historical context, TOR and mTOR are examined a posteriori as paragons of multiple discovery, illustrating how this common phenomenon (also known as simultaneous invention) can greatly accelerate problem solving and advance human knowledge in a fast-breaking area of scientific research.},
}

Animals
Drug Resistance, Fungal/drug effects/genetics
Fungal Proteins/genetics/metabolism
History, 20th Century
History, 21st Century
Humans
Mammals
Mechanistic Target of Rapamycin Complex 1/genetics/metabolism
Mechanistic Target of Rapamycin Complex 2/genetics/metabolism
Molecular Biology/*history
Mutation
Protein-Serine-Threonine Kinases/*genetics/metabolism
Saccharomyces cerevisiae Proteins/*genetics/metabolism
Sirolimus/pharmacology
Structure-Activity Relationship
TOR Serine-Threonine Kinases/chemistry/*metabolism
Tacrolimus Binding Protein 1A/genetics/*metabolism

@article {pmid30626637,
year = {2019},
author = {Haloupek, N},
title = {Barbara J. Meyer: 2018 Thomas Hunt Morgan Medal.},
journal = {Genetics},
volume = {211},
number = {1},
pages = {1-3},
doi = {10.1534/genetics.118.301883},
pmid = {30626637},
issn = {1943-2631},
mesh = {*Awards and Prizes ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Societies, Scientific ; United States ; },
abstract = {The Genetics Society of America's (GSA) Thomas Hunt Morgan Medal honors researchers for lifetime achievement in genetics. The recipient of the 2018 Morgan Medal, Barbara J. Meyer of the Howard Hughes Medical Institute and the University of California, Berkeley, is recognized for her career-long, groundbreaking investigations of how chromosome behaviors are controlled. Meyer's work has revealed mechanisms of sex determination and dosage compensation in Caenorhabditis elegans that continue to serve as the foundation of diverse areas of study on chromosome structure and function today, nearly 40 years after she began her work on the topic.},
}

*Awards and Prizes
Genetics/*history
History, 20th Century
History, 21st Century
Societies, Scientific
United States

@article {pmid30611771,
year = {2019},
author = {Jager, MJ and Brand, A and Claas, FHJ},
title = {Jon van Rood: The pioneer and his personal view on the early developments of HLA and immunogenetics.},
journal = {Transplant immunology},
volume = {52},
number = {},
pages = {1-26},
doi = {10.1016/j.trim.2018.12.006},
pmid = {30611771},
issn = {1878-5492},
mesh = {Blood Transfusion ; HLA Antigens/*immunology ; Hematopoietic Stem Cell Transplantation ; History, 20th Century ; History, 21st Century ; Humans ; Immunogenetics/*history ; *Transplantation Immunology ; },
abstract = {A single observation in a patient with an unusual transfusion reaction led to a life-long fascination with immunogenetics, and a strong wish to improve the care for patients needing a transplantation. In 2017, Jon van Rood, one of the pioneers in the field of HLA and immunogenetics of transplantation, passed away. Several obituaries have appeared describing some of the highlights of his career. However, the details of the early developments leading among others to the routine use of HLA as an important parameter for donor selection in organ- and hematopoietic stem cell transplantation are largely unknown to the community. After his retirement as Chair of the Department of Immunohaematology and Blood Transfusion (IHB) in 1991, Jon van Rood wrote regularly in the "Crosstalk", the departmental journal, and gave his personal view on the history of the discovery and implications of HLA. These autobiographic descriptions were originally written in Dutch and have been translated, while texts from other sources and the relevant references have been added to illustrate the historical perspective. This special issue of Transplant Immunology combines the autobiographic part, Jon's own version of the history, with other facts of his scientific life and the impact of his findings on the field of clinical transplantation. Hopefully, this knowledge of the history will be of benefit for future developments in transplantation immunology.},
}

Blood Transfusion
HLA Antigens/*immunology
Hematopoietic Stem Cell Transplantation
History, 20th Century
History, 21st Century
Humans
Immunogenetics/*history
*Transplantation Immunology

@article {pmid30604835,
year = {2018},
author = {Krumlauf, R},
title = {Hox genes, clusters and collinearity.},
journal = {The International journal of developmental biology},
volume = {62},
number = {11-12},
pages = {659-663},
doi = {10.1387/ijdb.180330rr},
pmid = {30604835},
issn = {1696-3547},
mesh = {Animals ; Body Patterning/genetics ; *Gene Expression Regulation, Developmental ; *Genes, Homeobox ; Genetics/*history ; History, 20th Century ; History, 21st Century ; },
abstract = {This year marks the 40th anniversary of the discovery by Ed Lewis of the property of collinearity in the bithorax gene complex in Drosophila. This landmark work illustrated the need to understand regulatory mechanisms that coordinate expression of homeotic gene clusters. Through the efforts of many groups, investigation of the Hox gene family has generated many fundamental findings on the roles and regulation of this conserved gene family in development, disease and evolution. This has led to a number of important conceptual advances in gene regulation and evolutionary biology. This article presents some of the history and advances made through studies on Hox gene clusters.},
}

Animals
Body Patterning/genetics
*Gene Expression Regulation, Developmental
*Genes, Homeobox
Genetics/*history
History, 20th Century
History, 21st Century

@article {pmid30584186,
year = {2018},
author = {},
title = {GGS Prize 2018.},
journal = {Genes & genetic systems},
volume = {93},
number = {5},
pages = {169},
doi = {10.1266/ggs.93.169},
pmid = {30584186},
issn = {1880-5779},
mesh = {*Awards and Prizes ; Genetics/*history ; History, 21st Century ; Periodicals as Topic/*history ; },
}

*Awards and Prizes
Genetics/*history
History, 21st Century
Periodicals as Topic/*history

@article {pmid30579463,
year = {2019},
author = {Heithaus, JL},
title = {50 Years Ago in The Journal Of Pediatrics: Cytogenetics in Mentally Defective Children with Anomalies: A Controlled Study.},
journal = {The Journal of pediatrics},
volume = {204},
number = {},
pages = {161},
doi = {10.1016/j.jpeds.2018.07.063},
pmid = {30579463},
issn = {1097-6833},
mesh = {Child ; Cytogenetics/*history/methods ; History, 20th Century ; Humans ; Intellectual Disability/diagnosis/*genetics/history ; Pediatrics/*history ; },
}

Child
Cytogenetics/*history/methods
History, 20th Century
Humans
Intellectual Disability/diagnosis/*genetics/history
Pediatrics/*history

@article {pmid30575338,
year = {2018},
author = {},
title = {12th East-West Immunogenetics Conference, 8-9th March 2018, City Conference Centre, Prague, Czech Republic.},
journal = {HLA},
volume = {92 Suppl 2},
number = {},
pages = {67-78},
doi = {10.1111/tan.13442},
pmid = {30575338},
issn = {2059-2310},
mesh = {Czech Republic ; Graft Rejection/diagnosis/genetics/*immunology/prevention & control ; Graft Survival/physiology ; Hematopoietic Stem Cell Transplantation/*methods ; Histocompatibility/genetics ; Histocompatibility Testing ; History, 21st Century ; Humans ; *Immune Tolerance ; Immunogenetics/history/methods/*trends ; Immunosuppressive Agents/therapeutic use ; Organ Transplantation/*methods ; Tissue Donors/supply & distribution ; },
}

Czech Republic
Graft Rejection/diagnosis/genetics/*immunology/prevention & control
Graft Survival/physiology
Hematopoietic Stem Cell Transplantation/*methods
Histocompatibility/genetics
Histocompatibility Testing
History, 21st Century
Humans
*Immune Tolerance
Immunogenetics/history/methods/*trends
Immunosuppressive Agents/therapeutic use
Organ Transplantation/*methods
Tissue Donors/supply & distribution

@article {pmid30554668,
year = {2018},
author = {Henn, BM and Quintana-Murci, L},
title = {Editorial overview: The history, geography and adaptation of human genes: A tribute to L. Luca Cavalli-Sforza.},
journal = {Current opinion in genetics & development},
volume = {53},
number = {},
pages = {iii-v},
doi = {10.1016/j.gde.2018.11.004},
pmid = {30554668},
issn = {1879-0380},
mesh = {Adaptation, Physiological/genetics ; Genetics, Population/*history ; Geography ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; },
}

Adaptation, Physiological/genetics
Genetics, Population/*history
Geography
History, 20th Century
History, 21st Century
Human Genetics/*history
Humans

@article {pmid30554378,
year = {2019},
author = {Hoßfeld, U and Levit, GS and Watts, E},
title = {100 Years of phenogenetics: Valentin Haecker and his examination of the phenotype.},
journal = {Molecular genetics and genomics : MGG},
volume = {294},
number = {2},
pages = {445-456},
doi = {10.1007/s00438-018-1519-1},
pmid = {30554378},
issn = {1617-4623},
mesh = {Genetics/*history ; History, 20th Century ; Humans ; Mutation/genetics ; *Phenotype ; },
abstract = {Following the 'rediscovery' of Mendel's work around 1900 the study of genetics grew rapidly and multiple new inheritance theories quickly emerged such as Hugo de Vries' "Mutation Theory" (1901) and the "Boveri-Sutton Chromosome Theory" (1902). Mendel's work also caught the attention of the German geneticist Valentin Haecker, yet he was generally dissatisfied the simplicity of Mendelian genetics as he believed that inheritance and the expression of various characteristics appeared to be much more complex than the proposed "on-off hypotheses". Haecker's primary objection was that Mendelian-based theories still failed to bridge the gap between hereditary units and phenotypic traits. Haecker thus set out to bridge this gap in his research program, which he called Phänogenetik ("phenogenetics"). He outlined his work in a special study "Entwicklungsgeschichtliche Eigenschaftsanalyse (Phänogenetik)" in 1918. 2018 thus marks the 100th anniversary of Haecker's seminal publication, which was devoted to the analysis of the phenotype and highlighted the true complexity of heredity. This article takes a specific look at Haecker and his work, while also illustrating how this often forgotten scientist influenced the field of genetics and other scientists.},
}

Genetics/*history
History, 20th Century
Humans
Mutation/genetics
*Phenotype

@article {pmid30523165,
year = {2018},
author = {Charlesworth, D},
title = {Mogens Westergaard's Contributions to Understanding Sex Chromosomes.},
journal = {Genetics},
volume = {210},
number = {4},
pages = {1143-1149},
doi = {10.1534/genetics.118.301128},
pmid = {30523165},
issn = {1943-2631},
mesh = {Alleles ; Chromosomes, Plant/genetics ; *Evolution, Molecular ; Genetic Linkage ; Genetics/*history ; History, 20th Century ; Magnoliopsida/*genetics ; Sex Chromosomes/genetics ; Sex Determination Processes/*genetics ; },
abstract = {A long-standing question in biology concerns the genetic mechanisms by which two sexes can evolve (botanists call this the dioecious condition and zoologists call it gonochory) from a functionally ancestral hermaphroditic state (without separate sexes). In 1932, H. J. Muller, one of the great 20th century geneticists but also a fine evolutionary biologist, pointed out that two mutations were necessary. It was therefore puzzling that sex determination often involves a single genetic locus. Muller believed that the evolution of a single-gene system was possible, because maize geneticists had synthesized a single-gene system with separate sexes. However, this system is highly artificial, requiring geneticists to actively eliminate the wild-type allele at one of the two genes involved. This genetic system cannot therefore explain the natural evolution of dioecy. In 1958, Westergaard reviewed studies from a diversity of flowering plants, and showed that the genetics of natural sex determination in plants does not support the maize system. Instead, the genetic results pointed to a model involving two separate factors, with close linkage creating a single genetic locus. Moreover, Westergaard also pointed out that a two-gene model offers a natural explanation for the evolution of suppressed recombination between sex chromosome pairs. Studying plants allowed genetic analyses of the early steps in the evolution of dioecy, using dioecious species that evolved recently from species without separate sexes, whereas Muller failed to fully understand such evolutionary changes because he focused on animals, where later changes have often happened and obscured the early stages.},
}

Alleles
Chromosomes, Plant/genetics
*Evolution, Molecular
Genetic Linkage
Genetics/*history
History, 20th Century
Magnoliopsida/*genetics
Sex Chromosomes/genetics
Sex Determination Processes/*genetics

@article {pmid30523164,
year = {2018},
author = {Haloupek, N},
title = {Mariana Wolfner: 2018 Genetics Society of America Medal.},
journal = {Genetics},
volume = {210},
number = {4},
pages = {1139-1141},
doi = {10.1534/genetics.118.301772},
pmid = {30523164},
issn = {1943-2631},
mesh = {Animals ; *Awards and Prizes ; Drosophila melanogaster/*genetics ; Genetics/*history/*trends ; History, 21st Century ; Humans ; Seminal Plasma Proteins/genetics ; Sexual Behavior ; Societies, Scientific ; },
abstract = {The Genetics Society of America (GSA) Medal recognizes researchers who have made outstanding contributions to the field of genetics in the past 15 years. The 2018 GSA Medal has been awarded to Mariana Wolfner of Cornell University for her work on reproductive processes that occur around the time of fertilization. This includes characterization of seminal proteins in Drosophila melanogaster, which has uncovered a wealth of information about sexual conflict in evolution.},
}

Animals
*Awards and Prizes
Drosophila melanogaster/*genetics
Genetics/*history/*trends
History, 21st Century
Humans
Seminal Plasma Proteins/genetics
Sexual Behavior
Societies, Scientific

@article {pmid30530852,
year = {2018},
author = {Russell, DW},
title = {Lucky, times ten: A career in Texas science.},
journal = {The Journal of biological chemistry},
volume = {293},
number = {49},
pages = {18804-18827},
doi = {10.1074/jbc.X118.005918},
pmid = {30530852},
issn = {1083-351X},
support = {P01 HL020948/HL/NHLBI NIH HHS/United States ; PL1 DK081182/DK/NIDDK NIH HHS/United States ; R01 AR051943/AR/NIAMS NIH HHS/United States ; },
mesh = {Animals ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Texas ; },
abstract = {On January 21, 2017, I received an E-mail from Herb Tabor that I had been simultaneously hoping for and dreading for several years: an invitation to write a "Reflections" article for the Journal of Biological Chemistry On the one hand, I was honored to receive an invitation from Herb, a man I have admired for over 40 years, known for 24 years, and worked with as a member of the Editorial Board and Associate Editor of the Journal of Biological Chemistry for 17 years. On the other hand, the invitation marked the waning of my career as an academic scientist. With these conflicting emotions, I wrote this article with the goals of recording my career history and recognizing the many mentors, trainees, and colleagues who have contributed to it and, perhaps with pretension, with the desire that students who are beginning a career in research will find inspiration in the path I have taken and appreciate the importance of luck.},
}

Animals
History, 20th Century
History, 21st Century
Humans
Molecular Biology/*history
Texas

@article {pmid30501998,
year = {2019},
author = {Arnone, MI and Oliveri, P and Martinez, P},
title = {A conceptual history of the "regulatory genome": From Theodor Boveri to Eric Davidson.},
journal = {Marine genomics},
volume = {44},
number = {},
pages = {24-31},
doi = {10.1016/j.margen.2018.11.003},
pmid = {30501998},
issn = {1876-7478},
mesh = {Animals ; *Gene Regulatory Networks ; *Genome ; Genomics/*history ; History, 19th Century ; History, 20th Century ; },
abstract = {The formalization of the idea of "Regulatory Genome" is a recent one. However, it stems from a long tradition in the study of how the genetic information is transferred between generations. Theodore Boveri suggested for the first time that the whole genome participates in the shaping of individuals. Through a long lineage of researchers, we have learned how this whole-genome activity is regulated, in space and time. It is, however, due to the insights and experimental approaches taken by different researchers, among them Eric Davidson and associates, that we understand the mechanistic basis of this regulation. Whole batteries of regulatory genes interact through their cis-regulatory modules, generating a precise pattern of cross-controlled gene activity (Gene Regulatory Networks). How these genes are deployed in development and evolution has become an area of vibrant research. Here we revisit the history of this intellectual endeavour, taking as key defining points along this historical trajectory the contributions of Theodor Boveri and Eric Davidson.},
}

Animals
*Gene Regulatory Networks
*Genome
Genomics/*history
History, 19th Century
History, 20th Century

@article {pmid30478371,
year = {2018},
author = {Datta, MS and Kishony, R},
title = {A spotlight on bacterial mutations for 75 years.},
journal = {Nature},
volume = {563},
number = {7733},
pages = {633-644},
doi = {10.1038/d41586-018-07521-8},
pmid = {30478371},
issn = {1476-4687},
mesh = {Animals ; Bacteria/cytology/*genetics/virology ; Bacteriophages/pathogenicity ; CRISPR-Cas Systems/genetics ; Escherichia coli/cytology/genetics/virology ; *Evolution, Molecular ; History, 20th Century ; History, 21st Century ; Microbiology/*history ; Models, Genetic ; Molecular Biology/*history ; Mutagenesis ; *Mutation ; Poisson Distribution ; Selection, Genetic/*genetics ; Streptococcus thermophilus/cytology/genetics/virology ; },
}

Animals
Bacteria/cytology/*genetics/virology
Bacteriophages/pathogenicity
CRISPR-Cas Systems/genetics
Escherichia coli/cytology/genetics/virology
*Evolution, Molecular
History, 20th Century
History, 21st Century
Microbiology/*history
Models, Genetic
Molecular Biology/*history
Mutagenesis
*Mutation
Poisson Distribution
Selection, Genetic/*genetics
Streptococcus thermophilus/cytology/genetics/virology

@article {pmid30467159,
year = {2018},
author = {Ramakrishnan, V and Henderson, R},
title = {Thomas A. Steitz (1940-2018).},
journal = {Science (New York, N.Y.)},
volume = {362},
number = {6417},
pages = {897},
doi = {10.1126/science.aav8253},
pmid = {30467159},
issn = {1095-9203},
support = {MC_U105184332//Medical Research Council/United Kingdom ; },
mesh = {History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Ribosomes/*ultrastructure ; United States ; },
}

History, 20th Century
History, 21st Century
Molecular Biology/*history
Ribosomes/*ultrastructure
United States

@article {pmid30457467,
year = {2018},
author = {Ma, Q and Adua, E and Boyce, MC and Li, X and Ji, G and Wang, W},
title = {IMass Time: The Future, in Future!.},
journal = {Omics : a journal of integrative biology},
volume = {22},
number = {11},
pages = {679-695},
doi = {10.1089/omi.2018.0162},
pmid = {30457467},
issn = {1557-8100},
mesh = {Artificial Intelligence/*trends ; Big Data ; Glycomics/history/methods ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Lipids/chemistry ; Mass Spectrometry/*history/methods/trends ; Metabolomics/history/methods ; Nobel Prize ; Proteins/chemistry ; Proteomics/history/methods ; },
abstract = {Joseph John Thomson discovered and proved the existence of electrons through a series of experiments. His work earned him a Nobel Prize in 1906 and initiated the era of mass spectrometry (MS). In the intervening time, other researchers have also been awarded the Nobel Prize for significant advances in MS technology. The development of soft ionization techniques was central to the application of MS to large biological molecules and led to an unprecedented interest in the study of biomolecules such as proteins (proteomics), metabolites (metabolomics), carbohydrates (glycomics), and lipids (lipidomics), allowing a better understanding of the molecular underpinnings of health and disease. The interest in large molecules drove improvements in MS resolution and now the challenge is in data deconvolution, intelligent exploitation of heterogeneous data, and interpretation, all of which can be ameliorated with a proposed IMass technology. We define IMass as a combination of MS and artificial intelligence, with each performing a specific role. IMass will offer advantages such as improving speed, sensitivity, and analyses of large data that are presently not possible with MS alone. In this study, we present an overview of the MS considering historical perspectives and applications, challenges, as well as insightful highlights of IMass.},
}

Artificial Intelligence/*trends
Big Data
Glycomics/history/methods
History, 19th Century
History, 20th Century
History, 21st Century
Lipids/chemistry
Mass Spectrometry/*history/methods/trends
Metabolomics/history/methods
Nobel Prize
Proteins/chemistry
Proteomics/history/methods

@article {pmid30442340,
year = {2018},
author = {Folle, GA},
title = {Chromosomes forever Prof. Máximo Eduardo Drets (1930-2017).},
journal = {Mutation research. Genetic toxicology and environmental mutagenesis},
volume = {836},
number = {Pt B},
pages = {2-3},
doi = {10.1016/j.mrgentox.2018.08.001},
pmid = {30442340},
issn = {1879-3592},
mesh = {*Chromosomes, Human ; Cytogenetics/*history ; Genome, Human ; History, 20th Century ; History, 21st Century ; Humans ; },
}

*Chromosomes, Human
Cytogenetics/*history
Genome, Human
History, 20th Century
History, 21st Century
Humans

@article {pmid30429215,
year = {2019},
author = {Uhlenbeck, OC},
title = {Thomas A. Steitz (1940-2018).},
journal = {RNA (New York, N.Y.)},
volume = {25},
number = {2},
pages = {169-172},
doi = {10.1261/rna.069575.118},
pmid = {30429215},
issn = {1469-9001},
mesh = {*Crystallography, X-Ray/history ; History, 20th Century ; History, 21st Century ; *Molecular Biology/history ; Nobel Prize ; },
}

*Crystallography, X-Ray/history
History, 20th Century
History, 21st Century
*Molecular Biology/history
Nobel Prize

@article {pmid30415837,
year = {2018},
author = {Posth, C and Nakatsuka, N and Lazaridis, I and Skoglund, P and Mallick, S and Lamnidis, TC and Rohland, N and Nägele, K and Adamski, N and Bertolini, E and Broomandkhoshbacht, N and Cooper, A and Culleton, BJ and Ferraz, T and Ferry, M and Furtwängler, A and Haak, W and Harkins, K and Harper, TK and Hünemeier, T and Lawson, AM and Llamas, B and Michel, M and Nelson, E and Oppenheimer, J and Patterson, N and Schiffels, S and Sedig, J and Stewardson, K and Talamo, S and Wang, CC and Hublin, JJ and Hubbe, M and Harvati, K and Nuevo Delaunay, A and Beier, J and Francken, M and Kaulicke, P and Reyes-Centeno, H and Rademaker, K and Trask, WR and Robinson, M and Gutierrez, SM and Prufer, KM and Salazar-García, DC and Chim, EN and Müller Plumm Gomes, L and Alves, ML and Liryo, A and Inglez, M and Oliveira, RE and Bernardo, DV and Barioni, A and Wesolowski, V and Scheifler, NA and Rivera, MA and Plens, CR and Messineo, PG and Figuti, L and Corach, D and Scabuzzo, C and Eggers, S and DeBlasis, P and Reindel, M and Méndez, C and Politis, G and Tomasto-Cagigao, E and Kennett, DJ and Strauss, A and Fehren-Schmitz, L and Krause, J and Reich, D},
title = {Reconstructing the Deep Population History of Central and South America.},
journal = {Cell},
volume = {175},
number = {5},
pages = {1185-1197.e22},
doi = {10.1016/j.cell.2018.10.027},
pmid = {30415837},
issn = {1097-4172},
support = {R01 GM100233/GM/NIGMS NIH HHS/United States ; R01 HG006399/HG/NHGRI NIH HHS/United States ; /HHMI/Howard Hughes Medical Institute/United States ; FC001595/CRUK_/Cancer Research UK/United Kingdom ; FC001595/MRC_/Medical Research Council/United Kingdom ; FC001595/WT_/Wellcome Trust/United Kingdom ; },
mesh = {Central America ; DNA, Ancient/analysis ; DNA, Mitochondrial/genetics ; Gene Flow ; Genetics, Population/*history ; *Genome, Human ; History, Ancient ; Humans ; Models, Theoretical ; South America ; },
abstract = {We report genome-wide ancient DNA from 49 individuals forming four parallel time transects in Belize, Brazil, the Central Andes, and the Southern Cone, each dating to at least ∼9,000 years ago. The common ancestral population radiated rapidly from just one of the two early branches that contributed to Native Americans today. We document two previously unappreciated streams of gene flow between North and South America. One affected the Central Andes by ∼4,200 years ago, while the other explains an affinity between the oldest North American genome associated with the Clovis culture and the oldest Central and South Americans from Chile, Brazil, and Belize. However, this was not the primary source for later South Americans, as the other ancient individuals derive from lineages without specific affinity to the Clovis-associated genome, suggesting a population replacement that began at least 9,000 years ago and was followed by substantial population continuity in multiple regions.},
}

Central America
DNA, Ancient/analysis
DNA, Mitochondrial/genetics
Gene Flow
Genetics, Population/*history
*Genome, Human
History, Ancient
Humans
Models, Theoretical
South America

@article {pmid30414532,
year = {2019},
author = {Resta, RG},
title = {What have we been trying to do and have we been any good at it? A history of measuring the success of genetic counseling.},
journal = {European journal of medical genetics},
volume = {62},
number = {5},
pages = {300-307},
doi = {10.1016/j.ejmg.2018.11.003},
pmid = {30414532},
issn = {1878-0849},
mesh = {Genetic Counseling/*history/methods/standards ; History, 20th Century ; History, 21st Century ; Humans ; Outcome and Process Assessment (Health Care) ; },
abstract = {Genetic counseling as a formal clinical service was defined in 1947, though the first study of its effectiveness was not published until 1966. This history can be broadly divided in to 3 periods: 1) 1947-1980, when the focus was primarily on prevention of disability, 2) 1981-1995, when the rationales for counseling began to shift and the first studies on the psychosocial effects of genetic counseling started to appear, albeit still largely focused on reproduction, and 3) 1996 - Present, when genetic counselors increased their presence in oncology, cardiology, and other non-reproductive areas of genetic counseling. Changes in outcome measures of genetic counseling have been intertwined with technological advances in genetic testing, better and more sophisticated outcome measures, the growing professional independence and clinical positions of genetic counselors, and the influence of social scientists particularly from behavioral psychology. Despite advances, assessment of the effectiveness of genetic counseling continues is complicated by a lack of widespread agreement about the most appropriate outcome measures as well as research design problems. Broadly speaking though, genetic counseling tends to improve information recall, improve psychological well-being, and is generally well-regarded by patients.},
}

Genetic Counseling/*history/methods/standards
History, 20th Century
History, 21st Century
Humans
Outcome and Process Assessment (Health Care)

@article {pmid30401760,
year = {2018},
author = {Haloupek, N},
title = {Job Dekker: 2018 Edward Novitski Prize.},
journal = {Genetics},
volume = {210},
number = {3},
pages = {745-746},
pmid = {30401760},
issn = {1943-2631},
mesh = {*Awards and Prizes ; Genetics/*history ; History, 20th Century ; History, 21st Century ; },
abstract = {The Genetics Society of America's (GSA) Edward Novitski Prize is awarded to researchers who have solved challenging problems in genetics through experiments that demonstrate exceptional creativity and ingenuity. Job Dekker of the University of Massachusetts Medical School has been selected for the 2018 award in recognition of his innovative approach to understanding chromosome interactions and nuclear organization. Among Dekker's contributions are the development of the now-ubiquitous approach of chromosome conformation capture and the discovery of topologically associating domains.},
}

*Awards and Prizes
Genetics/*history
History, 20th Century
History, 21st Century

@article {pmid30390178,
year = {2018},
author = {Maxson Jones, K and Ankeny, RA and Cook-Deegan, R},
title = {The Bermuda Triangle: The Pragmatics, Policies, and Principles for Data Sharing in the History of the Human Genome Project.},
journal = {Journal of the history of biology},
volume = {51},
number = {4},
pages = {693-805},
pmid = {30390178},
issn = {1573-0387},
support = {P50-HG-003391//National Human Genome Research Institute (US)/International ; R01-HG-008918/HG/NHGRI NIH HHS/United States ; },
mesh = {Bermuda ; Genomics/*history/legislation & jurisprudence/standards ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history/legislation & jurisprudence ; Humans ; Information Dissemination/*history/legislation & jurisprudence/methods ; Molecular Biology/*history ; *Organizational Policy ; United Kingdom ; United States ; },
abstract = {The Bermuda Principles for DNA sequence data sharing are an enduring legacy of the Human Genome Project (HGP). They were adopted by the HGP at a strategy meeting in Bermuda in February of 1996 and implemented in formal policies by early 1998, mandating daily release of HGP-funded DNA sequences into the public domain. The idea of daily sharing, we argue, emanated directly from strategies for large, goal-directed molecular biology projects first tested within the "community" of C. elegans researchers, and were introduced and defended for the HGP by the nematode biologists John Sulston and Robert Waterston. In the C. elegans community, and subsequently in the HGP, daily sharing served the pragmatic goals of quality control and project coordination. Yet in the HGP human genome, we also argue, the Bermuda Principles addressed concerns about gene patents impeding scientific advancement, and were aspirational and flexible in implementation and justification. They endured as an archetype for how rapid data sharing could be realized and rationalized, and permitted adaptation to the needs of various scientific communities. Yet in addition to the support of Sulston and Waterston, their adoption also depended on the clout of administrators at the US National Institutes of Health (NIH) and the UK nonprofit charity the Wellcome Trust, which together funded 90% of the HGP human sequencing effort. The other nations wishing to remain in the HGP consortium had to accommodate to the Bermuda Principles, requiring exceptions from incompatible existing or pending data access policies for publicly funded research in Germany, Japan, and France. We begin this story in 1963, with the biologist Sydney Brenner's proposal for a nematode research program at the Laboratory of Molecular Biology (LMB) at the University of Cambridge. We continue through 2003, with the completion of the HGP human reference genome, and conclude with observations about policy and the historiography of molecular biology.},
}

Bermuda
Genomics/*history/legislation & jurisprudence/standards
History, 20th Century
History, 21st Century
Human Genome Project/*history/legislation & jurisprudence
Humans
Information Dissemination/*history/legislation & jurisprudence/methods
Molecular Biology/*history
*Organizational Policy
United Kingdom
United States

@article {pmid30386945,
year = {2018},
author = {Green, ED and Donohue, CR},
title = {Special Issue Editors' Introduction: "Genomics and the Human Genome Project".},
journal = {Journal of the history of biology},
volume = {51},
number = {4},
pages = {625-629},
doi = {10.1007/s10739-018-9548-5},
pmid = {30386945},
issn = {1573-0387},
mesh = {Genomics/*history ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history ; Humans ; },
}

Genomics/*history
History, 20th Century
History, 21st Century
Human Genome Project/*history
Humans

@article {pmid30386858,
year = {2018},
author = {Tan, SY and Furubayashi, JK},
title = {Jacques Lucien Monod (1910-1976): Co-discoverer of the operon system.},
journal = {Singapore medical journal},
volume = {59},
number = {10},
pages = {555-556},
pmid = {30386858},
issn = {0037-5675},
mesh = {France ; History, 20th Century ; Humans ; Molecular Biology/*history ; *Operon ; Philately ; Philosophy ; },
}

France
History, 20th Century
Humans
Molecular Biology/*history
*Operon
Philately
Philosophy

@article {pmid30382834,
year = {2018},
author = {Hanage, WP},
title = {From bacterial genomics to clinical epidemiology: an interview with Bill Hanage.},
journal = {BMC biology},
volume = {16},
number = {1},
pages = {122},
pmid = {30382834},
issn = {1741-7007},
mesh = {Clinical Medicine/*history ; Epidemiology/*history ; *Genome, Bacterial ; Genomics/*history ; History, 21st Century ; Massachusetts ; Microbiota/genetics ; Peer Review, Research ; Selection, Genetic ; },
abstract = {Bill Hanage is an Associate Professor of Epidemiology at Harvard School of Public Health, where he studies fundamental and applied epidemiology using genomic and evolutionary methods. Bill spoke to us about the different types of selection that determine pathogen populations, asking reviewers to highlight positives of papers, and whether we're closer to a causal framework for studying the microbiome.},
}

Clinical Medicine/*history
Epidemiology/*history
*Genome, Bacterial
Genomics/*history
History, 21st Century
Massachusetts
Microbiota/genetics
Peer Review, Research
Selection, Genetic

@article {pmid30369473,
year = {2018},
author = {Chen, F and Lu, DR and Zhang, FX and Zhang, GF},
title = {[The development of genetics teaching in China in the last four decades and its future prospect].},
journal = {Yi chuan = Hereditas},
volume = {40},
number = {10},
pages = {916-923},
doi = {10.16288/j.yczz.18-171},
pmid = {30369473},
issn = {0253-9772},
mesh = {China ; Genetics/*education/history/standards ; History, 20th Century ; History, 21st Century ; Humans ; Teaching/education/*history/standards ; },
abstract = {Chinese genetics educators have carried out a comprehensive and systematic exploration and reform since 1978. With the guidance and help of the Genetics Society of China, they have made significant strides in the fields of genetics teaching system, publication of genetics textbooks, content of genetics teaching, workshop on genetics teaching, experimental teaching, application of advanced techniques, etc. These efforts have made remarkable achievements and promoted the vitality of genetics. The comprehensive development of education and teaching has trained a large number of excellent genetic talents for the development of China's economy and society. Here, we sum up the overall achievements of the teaching reform and propose some suggestions on the future development of genetics teaching in China, hoping that the quality of genetics teaching in China will take a new step in the new era.},
}

China
Genetics/*education/history/standards
History, 20th Century
History, 21st Century
Humans
Teaching/education/*history/standards

@article {pmid30369465,
year = {2018},
author = {Sun, LY and Xing, QH and He, L},
title = {[Retrospect and prospect of the genetic research on birth defects in China].},
journal = {Yi chuan = Hereditas},
volume = {40},
number = {10},
pages = {800-813},
doi = {10.16288/j.yczz.18-181},
pmid = {30369465},
issn = {0253-9772},
mesh = {Animals ; China ; Congenital Abnormalities/*genetics/history ; Genetic Research/history ; History, 20th Century ; History, 21st Century ; Humans ; },
abstract = {An important part of China's "Healthy China 2030" planning is to lower the rate of birth defects. Because genetic factors contribute solely or collaboratively to about 80% of the occurrence of birth defects, genetic studies on birth defects can provide precise molecular targets for clinical screening, diagnosis and treatment. Genetic research on birth defects in China has developed by leaps and bounds since 1960s. At the same time, as related research achievements keep accumulating, translation of these scientific discoveries to clinical applications, with genetic counseling and testing as the core practices, has been developed and optimized. A close collaboration between genetic researches and clinical applications would provide reliable technical support for giving birth to more "healthy children" in China. This article firstly reviews China's history of genetic research on birth defects, then introduces current situation and hot topics of the research area at home and abroad and finally discusses about future trend and related clinical applications. In summary, an overall view is provided here for the readers to understand the development route of genetic research on birth defects in China.},
}

Animals
China
Congenital Abnormalities/*genetics/history
Genetic Research/history
History, 20th Century
History, 21st Century
Humans

@article {pmid30337139,
year = {2018},
author = {Lowe, JWE},
title = {Sequencing through thick and thin: Historiographical and philosophical implications.},
journal = {Studies in history and philosophy of biological and biomedical sciences},
volume = {72},
number = {},
pages = {10-27},
doi = {10.1016/j.shpsc.2018.10.007},
pmid = {30337139},
issn = {1879-2499},
mesh = {Animals ; *Genome ; Genomics/*history ; *Historiography ; History, 21st Century ; *Philosophy ; Sequence Analysis, DNA/history/*veterinary ; Sus scrofa/*genetics ; },
abstract = {DNA sequencing has been characterised by scholars and life scientists as an example of 'big', 'fast' and 'automated' science in biology. This paper argues, however, that these characterisations are a product of a particular interpretation of what sequencing is, what I call 'thin sequencing'. The 'thin sequencing' perspective focuses on the determination of the order of bases in a particular stretch of DNA. Based upon my research on the pig genome mapping and sequencing projects, I provide an alternative 'thick sequencing' perspective, which also includes a number of practices that enable the sequence to travel across and be used in wider communities. If we take sequencing in the thin manner to be an event demarcated by the determination of sequences in automated sequencing machines and computers, this has consequences for the historical analysis of sequencing projects, as it focuses attention on those parts of the work of sequencing that are more centralised, fast (and accelerating) and automated. I argue instead that sequencing can be interpreted as a more open-ended process including activities such as the generation of a minimum tile path or annotation, and detail the historiographical and philosophical consequences of this move.},
}

Animals
*Genome
Genomics/*history
*Historiography
History, 21st Century
*Philosophy
Sequence Analysis, DNA/history/*veterinary
Sus scrofa/*genetics

@article {pmid30307501,
year = {2018},
author = {},
title = {Society for Glycobiology Awards - 2018.},
journal = {Glycobiology},
volume = {28},
number = {12},
pages = {906-909},
doi = {10.1093/glycob/cwy086},
pmid = {30307501},
issn = {1460-2423},
mesh = {*Awards and Prizes ; Glycomics/*history ; History, 21st Century ; Societies, Scientific/history ; },
}

*Awards and Prizes
Glycomics/*history
History, 21st Century
Societies, Scientific/history

@article {pmid30287513,
year = {2018},
author = {van Dijk, PJ and Weissing, FJ and Ellis, THN},
title = {How Mendel's Interest in Inheritance Grew out of Plant Improvement.},
journal = {Genetics},
volume = {210},
number = {2},
pages = {347-355},
pmid = {30287513},
issn = {1943-2631},
mesh = {Genetics/*history ; History, 19th Century ; Plant Breeding/*history/methods ; Plant Diseases ; },
abstract = {Despite the fact that Gregor Mendel is generally respected as the founder of genetics, little is known about the origin of and motivation for his revolutionary work. No primary sources are known that discuss his work during the period of his pea crossing experiments. Here, we report on two previously unknown interconnected local newspaper articles about Mendel's work that predate his famous Pisum lectures by 4 years. These articles describe Mendel as a plant breeder and a horticulturist. We argue that Mendel's initial interests concerned crop improvement, but that with time he became more interested in fundamental questions about inheritance, fertilization, and natural hybridization.},
}

Genetics/*history
History, 19th Century
Plant Breeding/*history/methods
Plant Diseases

@article {pmid30287512,
year = {2018},
author = {Haloupek, N},
title = {Philip Hieter: 2018 George W. Beadle Award.},
journal = {Genetics},
volume = {210},
number = {2},
pages = {345-346},
pmid = {30287512},
issn = {1943-2631},
mesh = {*Awards and Prizes ; Genetics/*history ; History, 21st Century ; Societies, Scientific ; United States ; },
abstract = {The Genetics Society of America's (GSA) George W. Beadle Award honors individuals who have made outstanding contributions to the community of genetics researchers and who exemplify the qualities of its namesake. For his work fostering communication and collaboration among members of the many subfields of genetics, Philip Hieter of the University of British Columbia has been named 2018's recipient of the award. Among his contributions are many initiatives that aim to better link human and model organism geneticists, including the Canadian Rare Diseases Models and Mechanisms Network-a consortium that connects investigators who identify rare disease genes in humans to basic scientists who can study the genes in model organisms.},
}

*Awards and Prizes
Genetics/*history
History, 21st Century
Societies, Scientific
United States

@article {pmid30265852,
year = {2018},
author = {Jonna, S and Giaccone, G and Subramaniam, DS},
title = {Understanding molecular diagnostic technology in oncology through the lens of lung cancer.},
journal = {Discovery medicine},
volume = {26},
number = {141},
pages = {21-29},
pmid = {30265852},
issn = {1944-7930},
mesh = {High-Throughput Nucleotide Sequencing ; History, 21st Century ; Humans ; Lung Neoplasms/drug therapy/*genetics ; *Medical Oncology ; Pathology, Molecular/history/*methods ; Protein Kinase Inhibitors/therapeutic use ; },
abstract = {Historically, advanced lung cancer conferred a poor prognosis, and chemotherapy only improved outcomes in patients with good performance status. The identification of certain molecular subtypes of non-small cell lung cancer changed the treatment paradigm by incorporating tumor genomic information into clinical decision-making. To meet the demands of this emerging approach, genomic technology rapidly expanded in an effort to detect specific driver mutations. While polymerase-chain reaction testing, immunohistochemistry, and fluorescent-in-situ hybridization have been standard-of-care, next-generation sequencing is increasingly replacing older technologies. Plasma-based testing is also gaining use given its convenience. Advances in molecular technology in this new era of precision medicine have led to the parallel development of companion diagnostics and novel tyrosine kinase inhibitors.},
}

High-Throughput Nucleotide Sequencing
History, 21st Century
Humans
Lung Neoplasms/drug therapy/*genetics
*Medical Oncology
Pathology, Molecular/history/*methods
Protein Kinase Inhibitors/therapeutic use

@article {pmid30264379,
year = {2018},
author = {Nicoglou, A},
title = {Waddington's epigenetics or the pictorial meetings of development and genetics.},
journal = {History and philosophy of the life sciences},
volume = {40},
number = {4},
pages = {61},
doi = {10.1007/s40656-018-0228-8},
pmid = {30264379},
issn = {0391-9714},
support = {ANR-11-IDEX-0005-02//French government through its "Investments for the Future" Program operated by the French National Research Agency (ANR)/ ; },
mesh = {Animals ; Biological Evolution ; Developmental Biology/*history ; Embryology/*history ; *Epigenesis, Genetic ; Epigenomics/*history ; History, 20th Century ; },
abstract = {In 1956, in his Principles of Embryology, Conrad Hal Waddington explained that the word "epigenetics" should be used to translate and update Wilhelm Roux' German notion of "Entwicklungsmechanik" (1890) to qualify the studies focusing on the mechanisms of development. When Waddington mentioned it in 1956, the notion of epigenetics was not yet popular, as it would become from the 1980s. However, Waddington referred first to the notion in the late 1930s. While his late allusion clearly reveals that Waddington readily associated the notion of epigenetics with the developmental process, in the contemporary uses of the notion this developmental connotation seems to have disappeared. The advent and success of molecular biology have probably contributed to focusing biologists' attention on the "genetic" or the "non-genetic" over the "developmental". In the present paper, I first examine the links that exist, in Waddington's work, between the classical notion of epigenesis in embryology and those of epigenetics that Waddington proposed to connect, and even synthesize, data both from embryology and genetics. Second, I show that Waddington's own view of epigenetics has changed over time and I analyze how these changes appear through his many representations (both schematic or metaphorical images) of the relationships between genetic signals and developmental processes.},
}

Animals
Biological Evolution
Developmental Biology/*history
Embryology/*history
*Epigenesis, Genetic
Epigenomics/*history
History, 20th Century

@article {pmid30224294,
year = {2018},
author = {Leeming, W and Barahona, A},
title = {Synthesis, convergence, and differences in the entangled histories of cytogenetics in medicine: A comparative study of Canada and Mexico.},
journal = {Studies in history and philosophy of biological and biomedical sciences},
volume = {71},
number = {},
pages = {8-16},
doi = {10.1016/j.shpsc.2018.08.002},
pmid = {30224294},
issn = {1879-2499},
mesh = {Canada ; Cytogenetics/*history ; History of Medicine ; History, 20th Century ; Humans ; Mexico ; },
abstract = {Most historians of science and medicine agree that medical interest in genetics intensified after 1930, and interest in the relationship of radiation damage and genetics continued and expanded after World War II. Moreover, they maintain that the synthesis and convergence of human genetics and cytological techniques in European centers resulted in their dissemination to centers in the United States, resulting in a new field of expertise focused on medicine and clinical research, known as cytogenetics. In this article, we broaden the scope of the inquiry by showing how the early histories of cytogenetics in Canada and Mexico unfolded against strikingly different backgrounds in clinical research and the delivery of health care. We thus argue that the field of cytogenetics did not emerge in a straightforward manner and develop in the same way in all countries. The article provides a brief background to the history of human cytogenetics, and then outlines key developments related to the early adoption of cytogenetics in Canada and Mexico. Conclusions are then drawn using comparisons of the different ways in which local determinants affected adoption. We then propose directions for future study focused on the ways in which circuits of practices, collaborative research, and transfers of knowledge have shaped how cytogenetics has come to be organised in medicine around the world.},
}

Canada
Cytogenetics/*history
History of Medicine
History, 20th Century
Humans
Mexico

@article {pmid30216089,
year = {2018},
author = {Wilson, JM},
title = {University Flunk-Out to Genomics Pioneer: An Interview with George Church, PhD.},
journal = {Human gene therapy. Clinical development},
volume = {29},
number = {3},
pages = {118-120},
doi = {10.1089/humc.2018.29035.int},
pmid = {30216089},
issn = {2324-8645},
mesh = {Genetic Therapy/*trends ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Universities ; },
}

Genetic Therapy/*trends
Genomics/*history
History, 20th Century
History, 21st Century
Humans
Universities

@article {pmid30200847,
year = {2018},
author = {Gottesman, S},
title = {Introduction.},
journal = {Annual review of microbiology},
volume = {72},
number = {},
pages = {i-ii},
doi = {10.1146/annurev-mi-72-070918-100001},
pmid = {30200847},
issn = {1545-3251},
mesh = {*Editorial Policies ; History, 20th Century ; History, 21st Century ; Microbiology/*history ; Molecular Biology/*history ; *Periodicals as Topic ; },
}

*Editorial Policies
History, 20th Century
History, 21st Century
Microbiology/*history
Molecular Biology/*history
*Periodicals as Topic

@article {pmid30200806,
year = {2018},
author = {Lieberman, J},
title = {Unveiling the RNA World.},
journal = {The New England journal of medicine},
volume = {379},
number = {13},
pages = {1278-1280},
doi = {10.1056/NEJMcibr1808725},
pmid = {30200806},
issn = {1533-4406},
mesh = {*Awards and Prizes ; Female ; History, 21st Century ; Humans ; Mentors/*history ; Molecular Biology/*history ; *RNA/physiology ; RNA, Small Untranslated/physiology ; Sexism/prevention & control ; United States ; },
}

*Awards and Prizes
Female
History, 21st Century
Humans
Mentors/*history
Molecular Biology/*history
*RNA/physiology
RNA, Small Untranslated/physiology
Sexism/prevention & control
United States

@article {pmid30194700,
year = {2019},
author = {Balzi, E and Moye-Rowley, WS},
title = {Unveiling the transcriptional control of pleiotropic drug resistance in Saccharomyces cerevisiae: Contributions of André Goffeau and his group.},
journal = {Yeast (Chichester, England)},
volume = {36},
number = {4},
pages = {195-200},
doi = {10.1002/yea.3354},
pmid = {30194700},
issn = {1097-0061},
support = {R01 GM049825/GM/NIGMS NIH HHS/United States ; },
mesh = {ATP-Binding Cassette Transporters ; Antifungal Agents/*pharmacology ; DNA-Binding Proteins/genetics ; Drug Resistance, Multiple, Fungal/*genetics ; *Gene Expression Regulation, Fungal ; History, 20th Century ; History, 21st Century ; Membrane Proteins/genetics ; Molecular Biology/history ; Saccharomyces cerevisiae/*drug effects/*genetics ; Saccharomyces cerevisiae Proteins/genetics ; Transcription Factors/genetics ; },
abstract = {Studies in the yeast Saccharomyces cerevisiae have provided much of the basic detail underlying the organization and regulation of multiple or pleiotropic drug resistance gene network in eukaryotic microbes. As with many aspects of yeast biology, the initial observations that drove the eventual molecular characterization of multidrug resistance gene were provided by genetics. This review focuses on contributions from the laboratory of Dr. André Goffeau that uncovered key aspects of the transcriptional regulation of these multidrug resistance genes. André's group made many seminal discoveries that helped lead to the current picture we have of how eukaryotic microbes respond to and deal with a variety of antifungal agents. The importance of the transcriptional contribution to antifungal drugs is illustrated by the large number of drug resistant mutants found in several yeast species that lead to increased activity of transcriptional regulators. The characterization of the Saccharomyces cerevisiae PDR1 gene by the Goffeau group provided the first molecular basis explaining the link between this hyperactive transcription factor and drug resistance.},
}

ATP-Binding Cassette Transporters
Antifungal Agents/*pharmacology
DNA-Binding Proteins/genetics
Drug Resistance, Multiple, Fungal/*genetics
*Gene Expression Regulation, Fungal
History, 20th Century
History, 21st Century
Membrane Proteins/genetics
Molecular Biology/history
Saccharomyces cerevisiae/*drug effects/*genetics
Saccharomyces cerevisiae Proteins/genetics
Transcription Factors/genetics

@article {pmid30190332,
year = {2018},
author = {Harding, SE and Channell, G and Phillips-Jones, MK},
title = {The discovery of hydrogen bonds in DNA and a re-evaluation of the 1948 Creeth two-chain model for its structure.},
journal = {Biochemical Society transactions},
volume = {46},
number = {5},
pages = {1171-1182},
pmid = {30190332},
issn = {1470-8752},
support = {//Biotechnology and Biological Sciences Research Council/United Kingdom ; },
mesh = {Animals ; Base Pairing ; Cattle ; DNA/*chemistry ; DNA Damage ; DNA Replication ; History, 20th Century ; Hydrogen ; *Hydrogen Bonding ; Hydrogen-Ion Concentration ; Molecular Biology/*history ; Nucleic Acid Conformation ; Nucleotides/chemistry ; Thymus Gland/chemistry ; Viscosity ; },
abstract = {We recall the experimental approaches involved in the discovery of hydrogen bonds in deoxyribonucleic acid (DNA) made 70 years ago by a team of scientists at University College Nottingham led by J.M. Gulland, and in relation to previous studies. This discovery proved an important step in the elucidation of the correct structure for DNA made by J.D. Watson and F.H.C. Crick, as acknowledged in 'The Double Helix'. At that time of the discovery, however, it was impossible to delineate between inter- and intra-chain hydrogen bonds. We also consider in the light of more recent hydrodynamic theory a tentative model for DNA proposed by Gulland's and D.O. Jordan's PhD student J.M. Creeth in his PhD thesis of 1948, with the correct prediction of two chains with a sugar-phosphate backbone on the exterior and hydrogen-bonded bases between the nucleotide bases of opposite chains in the interior. Our analysis shows that his incorporation of alternating breaks in the two-chain structure was not necessary to explain the viscosity data on scission of hydrogen bonds after titrating to high or low pH. Although Creeth's model is a depiction of DNA structure alone, he could not know whether the hydrogen bonding was intermolecular, although this was subsequently proved correct by others. The mechanisms by which replicative processes occurred were of course unknown at that time, and so, he could not have realised how closely his tentative model resembled steps in some viral replicative mechanisms involving the molecule of life that he was working on.},
}

Animals
Base Pairing
Cattle
DNA/*chemistry
DNA Damage
DNA Replication
History, 20th Century
Hydrogen
*Hydrogen Bonding
Hydrogen-Ion Concentration
Molecular Biology/*history
Nucleic Acid Conformation
Nucleotides/chemistry
Thymus Gland/chemistry
Viscosity

@article {pmid30166445,
year = {2018},
author = {Schaeffer, SW},
title = {Muller "Elements" in Drosophila: How the Search for the Genetic Basis for Speciation Led to the Birth of Comparative Genomics.},
journal = {Genetics},
volume = {210},
number = {1},
pages = {3-13},
pmid = {30166445},
issn = {1943-2631},
support = {R01 GM098478/GM/NIGMS NIH HHS/United States ; },
mesh = {Animals ; Chromosome Mapping/methods/*trends ; Chromosomes ; Comparative Genomic Hybridization/*history/methods/trends ; Drosophila/genetics/metabolism ; Evolution, Molecular ; Genetic Linkage/genetics ; Genetic Speciation ; Genome/genetics ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Synteny ; },
abstract = {The concept of synteny, or conservation of genes on the same chromosome, traces its origins to the early days of Drosophila genetics. This discovery emerged from comparisons of linkage maps from different species of Drosophila with the goal of understanding the process of speciation. H. J. Muller published a landmark article entitled Bearings of the "Drosophila" work on systematics, where he synthesized genetic and physical map data and proposed a model of speciation and chromosomal gene content conservation. These models have withstood the test of time with the advent of molecular genetic analysis from protein to genome level variation. Muller's ideas provide a framework to begin to answer questions about the evolutionary forces that shape the structure of the genome.},
}

Animals
Chromosome Mapping/methods/*trends
Chromosomes
Comparative Genomic Hybridization/*history/methods/trends
Drosophila/genetics/metabolism
Evolution, Molecular
Genetic Linkage/genetics
Genetic Speciation
Genome/genetics
Genomics/*history
History, 20th Century
History, 21st Century
Synteny

@article {pmid30154566,
year = {2018},
author = {Zatz, M},
title = {Helping our country as women scientists.},
journal = {Nature cell biology},
volume = {20},
number = {9},
pages = {1012},
doi = {10.1038/s41556-018-0161-9},
pmid = {30154566},
issn = {1476-4679},
mesh = {Biomedical Research/*history ; *Career Choice ; Career Mobility ; Female ; *Gender Identity ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Leadership ; Mentors/history ; Research Personnel/*history ; Stem Cell Research/*history ; Women, Working/*history ; },
}

Biomedical Research/*history
*Career Choice
Career Mobility
Female
*Gender Identity
Genetics/*history
History, 20th Century
History, 21st Century
Humans
Leadership
Mentors/history
Research Personnel/*history
Stem Cell Research/*history
Women, Working/*history

@article {pmid30154559,
year = {2018},
author = {Schuh, M},
title = {Taking a confident leap into uncertainty.},
journal = {Nature cell biology},
volume = {20},
number = {9},
pages = {1007},
doi = {10.1038/s41556-018-0177-1},
pmid = {30154559},
issn = {1476-4679},
support = {MC_U105192711//Medical Research Council/United Kingdom ; },
mesh = {Biomedical Research/*history ; *Career Choice ; Career Mobility ; Female ; *Gender Identity ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Research Personnel/*history ; Women, Working/*history ; Work-Life Balance ; },
}

Biomedical Research/*history
*Career Choice
Career Mobility
Female
*Gender Identity
History, 20th Century
History, 21st Century
Humans
Molecular Biology/*history
Research Personnel/*history
Women, Working/*history
Work-Life Balance

@article {pmid30154558,
year = {2018},
author = {Nik-Zainal, S},
title = {The duty to speak up.},
journal = {Nature cell biology},
volume = {20},
number = {9},
pages = {1006},
doi = {10.1038/s41556-018-0171-7},
pmid = {30154558},
issn = {1476-4679},
support = {100183//Wellcome Trust/United Kingdom ; A22932//Cancer Research UK/United Kingdom ; A23433//Cancer Research UK/United Kingdom ; A23916//Cancer Research UK/United Kingdom ; },
mesh = {Biomedical Research/*history ; *Career Choice ; Career Mobility ; Female ; *Gender Identity ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Research Personnel/*history ; Sexism/*history ; Women, Working/*history ; },
}

Biomedical Research/*history
*Career Choice
Career Mobility
Female
*Gender Identity
Genetics/*history
History, 20th Century
History, 21st Century
Humans
Research Personnel/*history
Sexism/*history
Women, Working/*history

@article {pmid30154552,
year = {2018},
author = {Akhtar, A},
title = {Finding your way through the science maze.},
journal = {Nature cell biology},
volume = {20},
number = {9},
pages = {1000},
doi = {10.1038/s41556-018-0175-3},
pmid = {30154552},
issn = {1476-4679},
mesh = {Biomedical Research/*history ; *Career Choice ; Career Mobility ; Female ; *Gender Identity ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Research Personnel/*history ; Women, Working/*history ; },
}

Biomedical Research/*history
*Career Choice
Career Mobility
Female
*Gender Identity
Genetics/*history
History, 20th Century
History, 21st Century
Humans
Research Personnel/*history
Women, Working/*history

@article {pmid30140966,
year = {2018},
author = {November, J},
title = {More than Moore's Mores: Computers, Genomics, and the Embrace of Innovation.},
journal = {Journal of the history of biology},
volume = {51},
number = {4},
pages = {807-840},
pmid = {30140966},
issn = {1573-0387},
mesh = {Computers/*statistics & numerical data ; Genomics/*history/instrumentation ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history ; Inventions/*statistics & numerical data ; National Human Genome Research Institute (U.S.)/*history ; United States ; },
abstract = {The genomics community has frequently compared advances in sequencing to advances in microelectronics. Lately there have been many claims, including by the National Human Genome Research Institute (NHGRI), that genomics is outpacing developments in computing as measured by Moore's law - the notion that computers double in processing capability per dollar spent every 18-24 months. Celebrations of the "$1000 genome" and other speed-related sequencing milestones might be dismissed as a distraction from genomics' slowness in delivering clinical breakthroughs, but the fact that such celebrations have been persistently encouraged by the NHGRI reveals a great deal about the priorities and expectations of the American general public, the intended audience of the genomics-computing comparison. By delving into the history of speculative thinking about sequencing and computing, this article demonstrates just how much more receptive to high-risk/high-payoff ventures the NIH and the general public have become. The article also provides access to some of the roots and consequences of the association of "innovation talk" with genomics, and the means to look past that association to the less glamorous (but arguably much more important) contributions of the NHGRI to building the field of genomics.},
}

Computers/*statistics & numerical data
Genomics/*history/instrumentation
History, 20th Century
History, 21st Century
Human Genome Project/*history
Inventions/*statistics & numerical data
National Human Genome Research Institute (U.S.)/*history
United States

@article {pmid30136864,
year = {2018},
author = {Mezquita-Pla, J},
title = {Gordon H. Dixon's trace in my personal career and the quantic jump experienced in regulatory information.},
journal = {Systems biology in reproductive medicine},
volume = {64},
number = {6},
pages = {448-468},
doi = {10.1080/19396368.2018.1503752},
pmid = {30136864},
issn = {1939-6376},
mesh = {Animals ; *Gene Expression Regulation ; Genomics/*history ; Histones/*physiology ; History, 20th Century ; History, 21st Century ; RNA/physiology ; },
abstract = {Even before Rosalin Franklin had discovered the DNA double helix, in her impressive X-ray diffraction image pattern, Erwin Schröedinger, described, in his excellent book, What is Life, how the finding of aperiodic crystals in biological systems surprised him (an aperiodic crystal, which, in my opinion is the material carrier of life). In the 21st century and still far from being able to define life, we are attending to a quick acceleration of knowledge on regulatory information. With the discovery of new codes and punctuation marks, we will greatly increase our understanding in front of an impressive avalanche of genomic sequences. Trifonov et al. defined a genetic code as a widespread DNA sequence pattern that carries a message with an impact on biology. These patterns are largely captured in transcribed messages that give meaning and identity to the particular cells. In this review, I will go through my personal career in and after my years of work in the laboratory of Gordon H. Dixon, extending toward the impressive acquisition of new knowledge on regulatory information and genetic codes provided by remarkable scientists in the field. Abbreviations: CA II: carbonic anhydridase II (chicken); Car2: carbonic anhydridase 2 (mouse); CpG islands: short (>0.5 kb) stretches of DNA with a G+C content ≥55%; DNMT1: DNA methyltransferases 1; DNMT3b: DNA methyltransferases 3B; DSB: double-strand DNA breaks; ERT: endogenous retrotransposon; ERV: endogenous retroviruses; ES cells: embryonic stem cells; GAPDH: glyceraldehide phosphate dehydrogenase; H1: histone H1; HATs: histone acetyltransferases; HDACs: histone deacetylases; H3K4me3: histone 3 trimethylated at lys 4; H3K79me2: histone 3 dimethylated at lys 79; HMG: high mobility group proteins; HMT: histone methyltransferase; HP1: heterochromatin protein 1; HR: homologous recombination; HSE: heat-shock element; ICRs: imprinted control regions; IRF: interferon regulatory factor; LDH-A/-B: lactate dehydrogenase A/B; LTR: long terminal repeats; MeCP2: methyl CpG binding protein 2; OCT4: octamer-binding transcription factor 4; PAF1: RNA Polymerase II associated factor 1; piRNA: PIWI-interacting RNA; poly(A) tails: poly-adenine tails; PRC2: polycomb repressive complex 2; PTMs: post-translational modifications; SIRT 1: sirtuin 1, silent information regulator; STAT3: signal transducer and activator of transcription; tRNAs: transfer RNA; tRFs: tRNA-derived fragments; TSS: transcription start site; TE: transposable elements; UB I: polyubiquitin I; UB II: polyubiquitin II; UBE 2N: ubiquitin conjugating enzyme E2N; 5'-UTR: 5'-untranslated sequences; 3'-UTR: 3'-untranslated sequences.},
}

Animals
*Gene Expression Regulation
Genomics/*history
Histones/*physiology
History, 20th Century
History, 21st Century
RNA/physiology

@article {pmid30068681,
year = {2018},
author = {Dufresnes, C and Miquel, C and Remollino, N and Biollaz, F and Salamin, N and Taberlet, P and Fumagalli, L},
title = {Howling from the past: historical phylogeography and diversity losses in European grey wolves.},
journal = {Proceedings. Biological sciences},
volume = {285},
number = {1884},
pages = {},
pmid = {30068681},
issn = {1471-2954},
mesh = {Animals ; DNA, Mitochondrial ; Europe ; *Genetic Variation ; Genetics, Population ; Haplotypes ; History, 19th Century ; History, 20th Century ; Phylogeography/history ; Population Dynamics ; Sequence Analysis, DNA ; Wolves/*genetics ; },
abstract = {Genetic bottlenecks resulting from human-induced population declines make alarming symbols for the irreversible loss of our natural legacy worldwide. The grey wolf (Canis lupus) is an iconic example of extreme declines driven by anthropogenic factors. Here, we assessed the genetic signatures of 150 years of wolf persecution throughout the Western Palaearctic by high-throughput mitochondrial DNA sequencing of historical specimens in an unprecedented spatio-temporal framework. Despite Late Pleistocene bottlenecks, we show that historical genetic variation had remained high throughout Europe until the last several hundred years. In Western Europe, where wolves nearly got fully exterminated, diversity dramatically collapsed at the turn of the twentieth century and recolonization from few homogeneous relict populations induced drastic shifts of genetic composition. By contrast, little genetic displacement and steady levels of diversity were maintained in Eastern European regions, where human persecution had lesser effects on wolf demography. By comparing prehistoric, historic and modern patterns of genetic diversity, our study hence traces the timeframe and the active human role in the decline of the grey wolf, an emblematic yet controversial animal which symbolizes the complex relationship between human societies and nature conservation.},
}

Animals
DNA, Mitochondrial
Europe
*Genetic Variation
Genetics, Population
Haplotypes
History, 19th Century
History, 20th Century
Phylogeography/history
Population Dynamics
Sequence Analysis, DNA
Wolves/*genetics

@article {pmid30061627,
year = {2018},
author = {Lombardo, PA},
title = {The power of heredity and the relevance of eugenic history.},
journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
volume = {20},
number = {11},
pages = {1305-1311},
doi = {10.1038/s41436-018-0123-4},
pmid = {30061627},
issn = {1530-0366},
mesh = {Eugenics/*history ; Genetics/*history ; Heredity/*genetics ; History, 20th Century ; Humans ; },
}

Eugenics/*history
Genetics/*history
Heredity/*genetics
History, 20th Century
Humans

@article {pmid30055809,
year = {2018},
author = {Godde, K},
title = {A new analysis interpreting Nilotic relationships and peopling of the Nile Valley.},
journal = {Homo : internationale Zeitschrift fur die vergleichende Forschung am Menschen},
volume = {69},
number = {4},
pages = {147-157},
doi = {10.1016/j.jchb.2018.07.002},
pmid = {30055809},
issn = {1618-1301},
mesh = {Cephalometry ; Chromosomes, Human, Y ; Egypt ; Ethnic Groups/genetics/*history ; Fossils ; Genetics, Population/history ; History, Ancient ; Humans ; Male ; Political Systems/history ; Population Dynamics/history ; },
abstract = {The process of the peopling of the Nile Valley likely shaped the population structure and early biological similarity of Egyptians and Nubians. As others have noted, affinity among Nilotic populations was due to an aggregation of events, including environmental, linguistic, and sociopolitical changes over a great deal of time. This study seeks to evaluate the relationships of Nubian and Egyptian groups in the context of the original peopling event. Cranial nonmetric traits from 18 Nubian and Egyptian samples, spanning Lower Egypt to Lower Nubia and approximately 7400 years, were analyzed using Mahalanobis D2 as a measure of biological distance. A principal coordinates analysis and spatial-temporal model were applied to these data. The results reveal temporal and spatial patterning consistent with documented events in Egyptian and Nubian population history. Moreover, the Mesolithic Nubian sample clustered with later Nubian and Egyptian samples, indicating that events prior to the Mesolithic were important in shaping the later genetic patterning of the Nubian population. Later contact through the establishment of the Egyptian fort at Buhen, Kerma's position as a strategic trade center along the Nile, and Egyptian colonization at Tombos maintained genetic similarity among the populations.},
}

Cephalometry
Chromosomes, Human, Y
Egypt
Ethnic Groups/genetics/*history
Fossils
Genetics, Population/history
History, Ancient
Humans
Male
Political Systems/history
Population Dynamics/history

@article {pmid30055084,
year = {2018},
author = {Cavalcanti, DP},
title = {Eduardo E. Castilla (1933-2017): El grande TROESMA.},
journal = {American journal of medical genetics. Part A},
volume = {176},
number = {8},
pages = {1701-1702},
doi = {10.1002/ajmg.a.38847},
pmid = {30055084},
issn = {1552-4833},
mesh = {Argentina ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Male ; },
}

Argentina
Genetics, Medical/*history
History, 20th Century
History, 21st Century
Humans
Male

@article {pmid30055082,
year = {2018},
author = {Carey, JC and Hennekam, RCM and Lin, AE and Barr, M},
title = {M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018).},
journal = {American journal of medical genetics. Part A},
volume = {176},
number = {8},
pages = {1703-1705},
doi = {10.1002/ajmg.a.38845},
pmid = {30055082},
issn = {1552-4833},
mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; },
}

Genetics, Medical/*history
History, 20th Century
History, 21st Century
Humans

@article {pmid30052801,
year = {2018},
author = {Schmidt, C and Hubbard, T},
title = {Scientists on the Spot: Sequencing the human genome to influence patient healthcare.},
journal = {Cardiovascular research},
volume = {114},
number = {9},
pages = {e66-e67},
doi = {10.1093/cvr/cvy133},
pmid = {30052801},
issn = {1755-3245},
mesh = {Genetic Predisposition to Disease ; *Genome, Human ; Genome-Wide Association Study/history ; Genomics/education/*history ; History, 20th Century ; History, 21st Century ; Humans ; Phenotype ; Precision Medicine/*history ; Risk Factors ; Whole Genome Sequencing/*history ; },
}

Genetic Predisposition to Disease
*Genome, Human
Genome-Wide Association Study/history
Genomics/education/*history
History, 20th Century
History, 21st Century
Humans
Phenotype
Precision Medicine/*history
Risk Factors
Whole Genome Sequencing/*history

@article {pmid30027861,
year = {2018},
author = {Segal, NL},
title = {Symposium in Honor of Irving I. Gottesman (December 29, 1930-June 29, 2016).},
journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies},
volume = {21},
number = {4},
pages = {281-284},
doi = {10.1017/thg.2018.29},
pmid = {30027861},
issn = {1832-4274},
mesh = {Animals ; Congresses as Topic ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; Twin Studies as Topic ; },
abstract = {The June 2016 death of our esteemed colleague, Dr Irving I. Gottesman, was felt as an extreme loss at so many levels by colleagues, students, friends, and family across the globe. Irv's stellar contributions to the field of twin research will continue to be remembered and cited for many years to come. In commemoration of his life and work, I organized a symposium at the 16th meeting of the International Society for Twin Studies, held in Madrid, Spain, November 16-18, 2017. The panelists included mostly former students, as well as colleagues, who presented their scientific research and personal remarks reflecting Irv's profound influence in shaping their lives and careers. A chronology of Irv's academic positions and honors is included in the introduction to this special issue of Twin Research and Human Genetics, followed by brief sketches of the panel participants; their scholarly papers and personal reflections follow.},
}

Animals
Congresses as Topic
History, 20th Century
History, 21st Century
Human Genetics/*history
Humans
Twin Studies as Topic

@article {pmid30025565,
year = {2018},
author = {Tavaré, S and Buzbas, EO},
title = {Introduction to the Paul Joyce special issue.},
journal = {Theoretical population biology},
volume = {122},
number = {},
pages = {1-2},
doi = {10.1016/j.tpb.2018.07.001},
pmid = {30025565},
issn = {1096-0325},
mesh = {Adaptation, Biological/genetics ; *Genetics, Population/history ; History, 20th Century ; History, 21st Century ; Humans ; Models, Genetic ; },
}

Adaptation, Biological/genetics
*Genetics, Population/history
History, 20th Century
History, 21st Century
Humans
Models, Genetic

@article {pmid29927928,
year = {2018},
author = {Weinberg, SM and Cornell, R and Leslie, EJ},
title = {Craniofacial genetics: Where have we been and where are we going?.},
journal = {PLoS genetics},
volume = {14},
number = {6},
pages = {e1007438},
pmid = {29927928},
issn = {1553-7404},
mesh = {Animals ; Craniofacial Abnormalities/*genetics ; Genetic Techniques/*trends ; Genetics/history/*trends ; Head/abnormalities/anatomy & histology/*growth & development ; History, 21st Century ; Humans ; Mice ; Models, Animal ; Zebrafish ; },
}

Animals
Craniofacial Abnormalities/*genetics
Genetic Techniques/*trends
Genetics/history/*trends
Head/abnormalities/anatomy & histology/*growth & development
History, 21st Century
Humans
Mice
Models, Animal
Zebrafish

@article {pmid29925256,
year = {2018},
author = {Kornfeld, S},
title = {A Lifetime of Adventures in Glycobiology.},
journal = {Annual review of biochemistry},
volume = {87},
number = {},
pages = {1-21},
doi = {10.1146/annurev-biochem-062917-011911},
pmid = {29925256},
issn = {1545-4509},
mesh = {Adaptor Proteins, Vesicular Transport/history/metabolism ; Animals ; Glycomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Mannosephosphates/history/metabolism ; Metabolic Networks and Pathways ; Phosphoric Diester Hydrolases/history/metabolism ; Receptor, IGF Type 2/history/metabolism ; Transferases (Other Substituted Phosphate Groups)/history/metabolism ; United States ; },
abstract = {My initial research experience involved studying how bacteria synthesize nucleotide sugars, the donors for the formation of cell wall polysaccharides. During this time, I became aware that mammalian cells also have a surface coat of sugars and was intrigued as to whether these sugars might be arranged in specific sequences that function as information molecules in biologic processes. Thus began a long journey that has taken me from glycan structural analysis and determination of plant lectin-binding preferences to the biosynthesis of Asn-linked oligosaccharides and the mannose 6-phosphate (Man-6-P) lysosomal enzyme targeting pathway. The Man-6-P system represents an early example of a glycan serving as an information molecule in a fundamental cellular function. The remarkable advances in the field of glycobiology since I entered have uncovered scores of additional examples of oligosaccharide-lectin interactions mediating critical biologic processes. It has been a rewarding experience to participate in the efforts that have established a central role for glycans in biology.},
}

Adaptor Proteins, Vesicular Transport/history/metabolism
Animals
Glycomics/*history
History, 20th Century
History, 21st Century
Humans
Mannosephosphates/history/metabolism
Metabolic Networks and Pathways
Phosphoric Diester Hydrolases/history/metabolism
Receptor, IGF Type 2/history/metabolism
Transferases (Other Substituted Phosphate Groups)/history/metabolism
United States

@article {pmid29867264,
year = {2018},
author = {Morrison, PJ},
title = {Medical Myths and Legends: Presidential Address to the Ulster Medical Society. 6th October 2016.},
journal = {The Ulster medical journal},
volume = {87},
number = {2},
pages = {102-108},
pmid = {29867264},
issn = {2046-4207},
mesh = {Acromegaly/genetics/history ; Biological Evolution ; Breast Neoplasms/diagnostic imaging/genetics/*history ; Early Detection of Cancer/history ; Female ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Homosexuality, Male/genetics ; Humans ; Male ; Mammography/history ; Northern Ireland ; Parkinson Disease/genetics ; },
}

Acromegaly/genetics/history
Biological Evolution
Breast Neoplasms/diagnostic imaging/genetics/*history
Early Detection of Cancer/history
Female
Genetics/*history
History, 20th Century
History, 21st Century
Homosexuality, Male/genetics
Humans
Male
Mammography/history
Northern Ireland
Parkinson Disease/genetics

@article {pmid29857002,
year = {2018},
author = {Brownlee, GG},
title = {The Legacy of Fred Sanger-100 Years on from 1918.},
journal = {Journal of molecular biology},
volume = {430},
number = {17},
pages = {2661-2669},
doi = {10.1016/j.jmb.2018.05.034},
pmid = {29857002},
issn = {1089-8638},
mesh = {Genomics/*history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Insulin/*chemistry/*history ; Sequence Analysis/*history/methods ; },
}

Genomics/*history/methods
History, 20th Century
History, 21st Century
Humans
Insulin/*chemistry/*history
Sequence Analysis/*history/methods

@article {pmid29847176,
year = {2018},
author = {Pederson, T},
title = {James Watson at 90.},
journal = {FASEB journal : official publication of the Federation of American Societies for Experimental Biology},
volume = {32},
number = {6},
pages = {2901-2902},
doi = {10.1096/fj.180601ufm},
pmid = {29847176},
issn = {1530-6860},
mesh = {DNA/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Nobel Prize ; Portraits as Topic ; },
}

DNA/*history
History, 20th Century
History, 21st Century
Humans
Molecular Biology/*history
Nobel Prize
Portraits as Topic

@article {pmid29777837,
year = {2018},
author = {Kropinski, AM},
title = {Bacteriophage research - What we have learnt and what still needs to be addressed.},
journal = {Research in microbiology},
volume = {169},
number = {9},
pages = {481-487},
doi = {10.1016/j.resmic.2018.05.002},
pmid = {29777837},
issn = {1769-7123},
mesh = {Anti-Bacterial Agents/administration & dosage/adverse effects/history ; *Bacteriophages/classification ; Classification ; Computational Biology/history ; Genomics/history ; History, 20th Century ; History, 21st Century ; Phage Therapy/history ; Research/*history ; Research Design ; },
abstract = {Research on bacteriophages has significantly enhanced our understanding of molecular biology, the genomes of prokaryotic cells, and viral ecology. Phages and lysins offer a viable alternative to the declining utility of antibiotics in this post-antibiotic era. They also provide ideal teaching tools for genomics and bioinformatics. This article touches on the first 100 years of phage research with the author commenting on what he thinks are the highlights, and what needs to be addressed.},
}

Anti-Bacterial Agents/administration & dosage/adverse effects/history
*Bacteriophages/classification
Classification
Computational Biology/history
Genomics/history
History, 20th Century
History, 21st Century
Phage Therapy/history
Research/*history
Research Design

@article {pmid29722874,
year = {2018},
author = {Nguyen, NTT and Contreras-Moreira, B and Castro-Mondragon, JA and Santana-Garcia, W and Ossio, R and Robles-Espinoza, CD and Bahin, M and Collombet, S and Vincens, P and Thieffry, D and van Helden, J and Medina-Rivera, A and Thomas-Chollier, M},
title = {RSAT 2018: regulatory sequence analysis tools 20th anniversary.},
journal = {Nucleic acids research},
volume = {46},
number = {W1},
pages = {W209-W214},
pmid = {29722874},
issn = {1362-4962},
support = {204562/Z/16/Z//Wellcome Trust/United Kingdom ; },
mesh = {Genetic Variation ; Genomics/history ; High-Throughput Nucleotide Sequencing/history ; History, 20th Century ; History, 21st Century ; Internet ; Nucleotide Motifs ; *Regulatory Sequences, Nucleic Acid ; *Software/history ; },
abstract = {RSAT (Regulatory Sequence Analysis Tools) is a suite of modular tools for the detection and the analysis of cis-regulatory elements in genome sequences. Its main applications are (i) motif discovery, including from genome-wide datasets like ChIP-seq/ATAC-seq, (ii) motif scanning, (iii) motif analysis (quality assessment, comparisons and clustering), (iv) analysis of regulatory variations, (v) comparative genomics. Six public servers jointly support 10 000 genomes from all kingdoms. Six novel or refactored programs have been added since the 2015 NAR Web Software Issue, including updated programs to analyse regulatory variants (retrieve-variation-seq, variation-scan, convert-variations), along with tools to extract sequences from a list of coordinates (retrieve-seq-bed), to select motifs from motif collections (retrieve-matrix), and to extract orthologs based on Ensembl Compara (get-orthologs-compara). Three use cases illustrate the integration of new and refactored tools to the suite. This Anniversary update gives a 20-year perspective on the software suite. RSAT is well-documented and available through Web sites, SOAP/WSDL (Simple Object Access Protocol/Web Services Description Language) web services, virtual machines and stand-alone programs at http://www.rsat.eu/.},
}

Genetic Variation
Genomics/history
High-Throughput Nucleotide Sequencing/history
History, 20th Century
History, 21st Century
Internet
Nucleotide Motifs
*Regulatory Sequences, Nucleic Acid
*Software/history

@article {pmid29717434,
year = {2018},
author = {Karlin-Neumann, G and Bizouarn, F},
title = {Entering the Pantheon of 21st Century Molecular Biology Tools: A Perspective on Digital PCR.},
journal = {Methods in molecular biology (Clifton, N.J.)},
volume = {1768},
number = {},
pages = {3-10},
doi = {10.1007/978-1-4939-7778-9_1},
pmid = {29717434},
issn = {1940-6029},
mesh = {Biomarkers, Tumor/genetics/*isolation & purification ; Biomedical Research/history/instrumentation/*methods ; History, 20th Century ; History, 21st Century ; Humans ; Medical Oncology/*methods ; Neoplasms/*diagnosis/genetics ; Nucleic Acids/genetics/isolation & purification ; Pathology, Molecular/history/instrumentation/methods ; Polymerase Chain Reaction/history/instrumentation/*methods ; },
abstract = {After several decades of relatively modest use, in the last several years digital PCR (dPCR) has grown to become the new gold standard for nucleic acid quantification. This coincides with the commercial availability of scalable, affordable, and reproducible droplet-based dPCR platforms in the past five years and has led to its rapid dissemination into diverse research fields and testing applications. Among these, it has been adopted most vigorously into clinical oncology where it is beginning to be used for plasma genotyping in cancer patients undergoing treatment. Additionally, innovation across the scientific community has extended the benefits of reaction partitioning beyond DNA and RNA quantification alone, and demonstrated its usefulness in evaluating DNA size and integrity, the physical linkage of colocalized markers, levels of enzyme activity and specific cation concentrations in a sample, and more. As dPCR technology gains in popularity and breadth, its power and simplicity can often be taken for granted; thus, the reader is reminded that due diligence must be exercised in order to make claims not only of precision but also of accuracy in their measurements.},
}

Biomarkers, Tumor/genetics/*isolation & purification
Biomedical Research/history/instrumentation/*methods
History, 20th Century
History, 21st Century
Humans
Medical Oncology/*methods
Neoplasms/*diagnosis/genetics
Nucleic Acids/genetics/isolation & purification
Pathology, Molecular/history/instrumentation/methods
Polymerase Chain Reaction/history/instrumentation/*methods

@article {pmid29696759,
year = {2018},
author = {Opitz, JM},
title = {Arno G. Motulsky, 1923-2018, Luck and Service.},
journal = {American journal of medical genetics. Part A},
volume = {176},
number = {6},
pages = {1285-1288},
doi = {10.1002/ajmg.a.38702},
pmid = {29696759},
issn = {1552-4833},
mesh = {Genetics, Medical/*history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Portraits as Topic ; },
}

Genetics, Medical/*history/methods
History, 20th Century
History, 21st Century
Humans
Portraits as Topic