Integration of disease-specific single nucleotide polymorphisms, expression quantitative trait loci and coexpression networks reveal novel candidate genes for type 2 diabetes. [PDF]
, 2012 Aims/hypothesisWhile genome-wide association studies (GWASs) have been successful in identifying novel variants associated with various diseases, it has been much more difficult to determine the biological mechanisms underlying these associations ...
Butte, AJ +6 more
core +2 more sources
ForestPMPlot: A Flexible Tool for Visualizing Heterogeneity Between Studies in Meta-analysis. [PDF]
, 2016 Meta-analysis has become a popular tool for genetic association studies to combine different genetic studies. A key challenge in meta-analysis is heterogeneity, or the differences in effect sizes between studies.
Eskin, Eleazar +5 more
core +3 more sources
Genetic Epidemiology, 2021 By treating genetic variants as instrumental variables (IVs), two‐sample Mendelian randomization (MR) methods detect genetically regulated risk exposures for complex diseases using only summary statistics.
Kevin J. Gleason, Fan Yang, Lin S. Chen
semanticscholar +1 more source
Genome-wide linkage analysis of global gene expression in loin muscle tissue identifies candidate genes in pigs. [PDF]
PLoS ONE, 2011 BACKGROUND: Nearly 6,000 QTL have been reported for 588 different traits in pigs, more than in any other livestock species. However, this effort has translated into only a few confirmed causative variants.
Juan Pedro Steibel +10 more
doaj +1 more source
PLoS ONE, 2014 Most genome-wide association studies consider genes that are located closest to single nucleotide polymorphisms (SNPs) that are highly significant for those studies.
Kyung-Won Hong +3 more
doaj +1 more source
HT-eQTL: integrative expression quantitative trait loci analysis in a large number of human tissues
BMC Bioinformatics, 2018 Background Expression quantitative trait loci (eQTL) analysis identifies genetic markers associated with the expression of a gene. Most existing eQTL analyses and methods investigate association in a single, readily available tissue, such as blood. Joint
Gen Li +3 more
doaj +1 more source
Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure [PDF]
, 2019 Heart failure is a leading cause of mortality, yet our understanding of the genetic interactions underlying this disease remains incomplete. Here, we harvest 1352 healthy and failing human hearts directly from transplant center operating rooms, and ...
Ashley, Euan A. +34 more
core +2 more sources
BMC Genomics, 2021 Background Intramuscular fat (IMF) content is a determining factor for meat taste. The Luchuan pig is a fat-type local breed in southern China that is famous for its desirable meat quality due to high IMF, however, the crossbred offspring of Luchuan sows
Yang Liu +11 more
semanticscholar +1 more source
Contribution of trans regulatory eQTL to cryptic genetic variation in C. elegans
BMC Genomics, 2017 Background Cryptic genetic variation (CGV) is the hidden genetic variation that can be unlocked by perturbing normal conditions. CGV can drive the emergence of novel complex phenotypes through changes in gene expression.
Basten L. Snoek +8 more
doaj +1 more source
Mapping the genetic architecture of gene expression in human liver [PDF]
, 2008 Genetic variants that are associated with common human diseases do not lead directly to disease, but instead act on intermediate, molecular phenotypes that in turn induce changes in higher-order disease traits.
Avila-Campillo, I +30 more
core +3 more sources