Scientific Reports, 2021 Genetic variants causing underlying pharmacogenetic and disease phenotypes have been used as the basis for clinical decision-making. However, due to the lack of standards for next-generation sequencing (NGS) pipelines, reproducing genetic variants among ...
Jeong Hoon Lee +2 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
Novel genetic variants data for adaptation to hypoxia in native chickens
BMC Research Notes, 2023 Objective The genomic response and the role of genetic variants in hypoxia condition are always interesting issues about adaption pathways at genomic level.
Atieh Moradi +4 more
doaj +1 more source
Genome-wide association study identifies common and low-frequency variants at the AMHgene locus that strongly predict serum AMH levels in males [PDF]
, 2016 Anti-Müllerian hormone (AMH) is an essential messenger of sexual differentiation in the foetus and is an emerging biomarker of postnatal reproductive function in females.
Day, Felix R. +5 more
core +1 more source
A Boolean algebra for genetic variants
Bioinformatics, 2023 AbstractMotivationBeyond identifying genetic variants, we introduce a set of Boolean relations, which allows for a comprehensive classification of the relations of every pair of variants by taking all minimal alignments into account. We present an efficient algorithm to compute these relations, including a novel way of efficiently computing all minimal
Jonathan K Vis +3 more
openaire +6 more sources
Rare Variants in Transcript and Potential Regulatory Regions Explain a Small Percentage of the Missing Heritability of Complex Traits in Cattle. [PDF]
PLoS ONE, 2015 The proportion of genetic variation in complex traits explained by rare variants is a key question for genomic prediction, and for identifying the basis of "missing heritability"--the proportion of additive genetic variation not captured by common ...
Oscar Gonzalez-Recio +6 more
doaj +1 more source
Discovery and genotyping of structural variation from long-read haploid genome sequence data [PDF]
, 2016 In an effort to more fully understand the full spectrum of human genetic variation, we generated deep single-molecule, real-time (SMRT) sequencing data from two haploid human genomes.
Boitano, Matthew +15 more
core +2 more sources
Genome-wide and Mendelian randomisation studies of liver MRI yield insights into the pathogenesis of steatohepatitis [PDF]
, 2020 Background A non-invasive method to grade the severity of steatohepatitis and liver fibrosis is magnetic resonance imaging (MRI) based corrected T1 (cT1).
Banerjee, R +25 more
core +3 more sources
Substrate Specificity of CYP2D6 Genetic Variants
Pharmacogenomics, 2021 Genetic variation in the gene encoding CYP2D6 is used to guide drug prescribing in clinical practice. However, genetic variants in CYP2D6 show substrate-specific effects that are currently not accounted for. With a systematic literature, we retrieved 22 original studies describing in vitro experiments focusing on CYP2D6 alleles (CYP2D6*1, *2, *10 and ...
Lee, M. van der +2 more
openaire +3 more sources
The genetic contribution to severe post-traumatic osteoarthritis [PDF]
, 2013 Objective: to compare the combined role of genetic variants loci associated with risk of knee or hip osteoarthritis (OA) in post-traumatic (PT) and non-traumatic (NT) cases of clinically severe OA leading to total joint replacement.
Ana M Valdes +21 more
core +1 more source