Results 61 to 70 of about 4,753,986 (376)
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans. [PDF]
PLoS Genetics, 2013 Whole-exome or gene targeted resequencing in hundreds to thousands of individuals has shown that the majority of genetic variants are at low frequency in human populations.
Ferran Casals +20 more
doaj +1 more source
Molecular Genetic Influences on Normative and Problematic Alcohol Use in a Population-Based Sample of College Students [PDF]
, 2017 Background: Genetic factors impact alcohol use behaviors and these factors may become increasingly evident during emerging adulthood. Examination of the effects of individual variants as well as aggregate genetic variation can clarify mechanisms ...
Adkins, Amy +16 more
core +2 more sources
American Journal of Epidemiology, 2015 A conventional Mendelian randomization analysis assesses the causal effect of a risk factor on an outcome by using genetic variants that are solely associated with the risk factor of interest as instrumental variables. However, in some cases, such as the
S. Burgess, S. Thompson
semanticscholar +1 more source
Integrative Genomic Analysis for the Discovery of Biomarkers in Prostate Cancer
Biomarker Insights, 2014 Genome-wide association studies (GWAS) have achieved great success in identifying single nucleotide polymorphisms (SNPs, herein called genetic variants) and genes associated with risk of developing prostate cancer. However, GWAS do not typically link the
Chindo Hicks +6 more
doaj +1 more source
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2020 Background Genetic testing in pediatric primary dilated cardiomyopathy (DCM) patients has identified numerous disease‐causing variants, but few studies have evaluated genetic testing outcomes in this population in the context of patient and familial ...
Daniel Quiat +4 more
doaj +1 more source
Efficient inference for genetic association studies with multiple outcomes
, 2017 Combined inference for heterogeneous high-dimensional data is critical in modern biology, where clinical and various kinds of molecular data may be available from a single study.
Davison, Anthony C. +3 more
core +1 more source
Evidence of widespread selection on standing variation in Europe at height-associated SNPs. [PDF]
, 2012 Strong signatures of positive selection at newly arising genetic variants are well documented in humans(1-8), but this form of selection may not be widespread in recent human evolution(9).
Chiang, Charleston WK +6 more
core +1 more source
FinnGen provides genetic insights from a well-phenotyped isolated population
Nature, 2023 Genome-wide association studies of individuals from an isolated population (data from the Finnish biobank study FinnGen) and consequent meta-analyses facilitate the identification of previously unknown coding variant associations for both rare and common
M. Kurki +167 more
semanticscholar +1 more source
Interaction of Insulin Resistance and Related Genetic Variants With Triglyceride-Associated Genetic Variants [PDF]
Circulation: Cardiovascular Genetics, 2016 Background— Several studies suggest that some triglyceride-associated single-nucleotide polymorphisms (SNPs) have pleiotropic and opposite effects on glycemic traits. This potentially implicates them in pathways such as de novo lipogenesis, which is presumably upregulated in the context of insulin resistance.
Yann C, Klimentidis, Amit, Arora
openaire +2 more sources
Journal of Human Reproductive SciencesBackground: Idiopathic azoospermia is one of the most common reasons for male infertility, but little is known about its genetic origins. The CDC25A gene, a meiotic core regulator, encodes a phosphatase that triggers the G1/S transition of meiosis.
Samudra Pal +4 more
doaj +1 more source