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
Nucleic Acids Res., 2020 Deciphering the biological impacts of millions of single nucleotide variants remains a major challenge. Recent studies suggest that RNA modifications play versatile roles in essential biological mechanisms, and are closely related to the progression of ...
Kunqi Chen +8 more
semanticscholar +1 more source
iPSCORE: A Resource of 222 iPSC Lines Enabling Functional Characterization of Genetic Variation across a Variety of Cell Types. [PDF]
, 2017 Large-scale collections of induced pluripotent stem cells (iPSCs) could serve as powerful model systems for examining how genetic variation affects biology and disease.
Adler, Eric +47 more
core +2 more sources
Epidemiology, 2016 Mendelian randomization investigations are becoming more powerful and simpler to perform, due to the increasing size and coverage of genome-wide association studies and the increasing availability of summarized data on genetic associations with risk ...
S. Burgess +4 more
semanticscholar +1 more source
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
Genetic variants are identified to increase risk of COVID-19 related mortality from UK Biobank data
Human Genomics, 2020 The severity of coronavirus disease 2019 (COVID-19) caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is highly heterogeneous. Studies have reported that males and some ethnic groups are at increased risk of death from COVID-19 ...
Jianchang Hu +4 more
semanticscholar +1 more source
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
Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates. [PDF]
, 2020 Current evidence from case/control studies indicates that genetic risk for psychiatric disorders derives primarily from numerous common variants, each with a small phenotypic impact. The literature describing apparent segregation of bipolar disorder (BP)
Aldana, Ileana +37 more
core +2 more sources
MTSplice predicts effects of genetic variants on tissue-specific splicing
Genome Biology, 2020 We develop the free and open-source model Multi-tissue Splicing (MTSplice) to predict the effects of genetic variants on splicing of cassette exons in 56 human tissues.
Jun Cheng +3 more
semanticscholar +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