Browsing by Subject "genetics"
Now showing items 1-20 of 26
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1997 Delegates to the Second International Strategy Meeting on Human Genome Sequencing in Bermuda from Gert-Jan van Ommen
(2016-08-31)Photographs from the February 1997 Bermuda meeting. Courtesy of Gert-Jan van Ommen. -
2000 NHGRI e-mail request for HGP sequencing center information, and corresponding aggregate data from NHGRI, compiled by Kris Wetterstrand
(2016-08-31)Email exchange in 2013 between Kathryn Maxson (Duke) and Kris Wetterstrand (NHGRI), regarding country funding and other data for the HGP sequencing centers. Also includes the email request for such information, from NHGRI ... -
2011 18 August Mark Guyer-Jane Peterson interview
(2011-08-18)Mark Guyer and Jane Peterson, in-person interview with Kathryn Maxson and Robert Cook-Deegan, conducted in Rockville, MD (NIH campus), 18 August 2011. Mark Guyer and Jane Peterson were grants program officers at the NIH ... -
2012 09 February Jean Weissenbach interview
(2016-08-31)Jean Weissenbach, telephone interview by Kathryn Maxson and Robert Cook-Deegan, conducted from Durham, NC 09 February 2012. Jean Weissenbach, a leader in French genetic mapping, directed the French national sequencing center, ... -
An evolutionary genomics approach towards understanding Plasmodium vivax in central Africa
(2022)Increased attention has recently been placed on understanding the natural variation of the malaria parasite Plasmodium vivax across the globe, as in 2020 alone, P. vivax caused an estimated 4.5 million malaria cases and ... -
An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.
(Circulation, 2020-02)BACKGROUND:Insight into type 5 long QT syndrome (LQT5) has been limited to case reports and small family series. Improved understanding of the clinical phenotype and genetic features associated with rare KCNE1 variants implicated ... -
apex: phylogenetics with multiple genes.
(Mol Ecol Resour, 2017-01)Genetic sequences of multiple genes are becoming increasingly common for a wide range of organisms including viruses, bacteria and eukaryotes. While such data may sometimes be treated as a single locus, in practice, a number ... -
Behavior Genetics and Post Genomics
(Behavioral and Brain Sciences, 2012-12)The science of genetics is undergoing a paradigm shift. Recent discoveries, including the activity of retrotransposons, the extent of copy number variations, somatic and chromosomal mosaicism, and the nature of the epigenome ... -
Environmental fate and effects of Bacillus thuringiensis (Bt) proteins from transgenic crops: a review.
(Journal of agricultural and food chemistry, 2005-06)This paper reviews the scientific literature addressing the environmental fate and nontarget effects of the Cry protein toxins from Bacillus thuringiensis (Bt), specifically resulting from their expression in transgenic ... -
Evolution of ASPM coding variation in apes and associations with brain structure in chimpanzees.
(Genes, brain, and behavior, 2019-05-23)Studying genetic mechanisms underlying primate brain morphology can provide insight into the evolution of human brain structure and cognition. In humans, loss-of-function mutations in the gene coding for ASPM (Abnormal Spindle ... -
Genes, Environment, and Epigenetics in Neural Tube Defects
(2014)Neural tube defects (NTDs) are a common class of human birth defects with a complex, multifactorial etiology. Although many contributing factors have been identified, an estimated 60% of human population risk remains ... -
Genetic and Environmental Mechanisms Affecting Gene Expression in Evolution and Development of Two Heliocidaris Sea Urchin Species
(2023)In this thesis, I investigate the influence of three different factors (environment, chromatin regulation, and genome structure) on gene expression in the evolution and development of the sea urchin species Heliocidaris ... -
GWAS Identifies New Loci for Painful Temporomandibular Disorder.
(J Dent Res, 2017-01-01)Temporomandibular disorder (TMD) is a musculoskeletal condition characterized by pain and reduced function in the temporomandibular joint and/or associated masticatory musculature. Prevalence in the United States is 5% and ... -
Human Genomics of Complex Trait Severity
(2017)Genetics account for a large, mostly unexplained proportion of human disease. Though the role of genetics in simple, Mendelian traits has long been established, it is more difficult to disambiguate the role of various human ... -
Identification of Mutations That Cause a Phenotypically and Genetically Heterogeneous Disorder, Muscular Dystrophy
(2013)Muscular dystrophy is a devastating disease for which no cures or preventative treatments are currently available. There has been great progress in the identification of genetic mutations that cause some forms of muscle ... -
Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.
(Molecular Genetics & Genomic Medicine, 2019-06)BACKGROUND:With expanding use of clinical whole exome sequencing (WES), genetic variants of uncertain significance are increasingly identified. As pathologic mutations in genes associated with arrhythmogenic right ventricular ... -
Metabolic Pathways of Type 2 Diabetes: Intersection of Genetics, Transcriptomics, and Metabolite Profiling
(2008-07-25)Type 2 diabetes is characterized by insufficient insulin secretion to maintain euglycemia in the setting of peripheral insulin resistance. The majority of insulin-resistant diabetics are obese, yet not all insulin-resistant ...
