Results 41 to 50 of about 1,262,664 (328)
A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease [PDF]
, 2015 Existing knowledge of genetic variants affecting risk of coronary artery disease (CAD) is largely based on genome-wide association studies (GWAS) analysis of common SNPs.
Alver, Maris +153 more
core +5 more sources
Characterizing genetic variants for clinical action [PDF]
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2014 Genome‐wide association studies, DNA sequencing studies, and other genomic studies are finding an increasing number of genetic variants associated with clinical phenotypes that may be useful in developing diagnostic, preventive, and treatment strategies for individual patients.
Erin M. Ramos +34 more
openaire +3 more sources
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
Genetic landscape of autism spectrum disorder in Vietnamese children [PDF]
, 2020 Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited.
Bui, HTP +12 more
core +2 more sources
Visualizing the geography of genetic variants [PDF]
Bioinformatics, 2016 Abstract Summary One of the key characteristics of any genetic variant is its geographic distribution. The geographic distribution can shed light on where an allele first arose, what populations it has spread to, and in turn on how migration, genetic drift, and natural selection have acted. The
Marcus, Joseph H., Novembre, John
openaire +2 more sources
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
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
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
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