Integration of disease-specific single nucleotide polymorphisms, expression quantitative trait loci and coexpression networks reveal novel candidate genes for type 2 diabetes. [PDF]
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 +4 more sources
Liver expression quantitative trait loci: a foundation for pharmacogenomic research
Expression quantitative trait loci (eQTL) analysis can provide insights into the genetic regulation of gene expression at a genomic level and this information is proving extremely useful in many different areas of research.
Dylan eGlubb +3 more
doaj +1 more source
A geometric interpretation of the permutation $p$-value and its application in eQTL studies [PDF]
Permutation $p$-values have been widely used to assess the significance of linkage or association in genetic studies. However, the application in large-scale studies is hindered by a heavy computational burden.
Sun, Wei, Wright, Fred A.
core +3 more sources
Summary: Background: Problematic alcohol use (PAU) is a serious global health issue with limited treatment options. Although genetic studies have identified genomic regions associated with PAU, the specific causal genes and proteins remain unclear. This
Dong June Lee +8 more
doaj +1 more source
Development of a Next-Generation NIL Library in Arabidopsis Thaliana for Dissecting Complex Traits [PDF]
The identification of the loci and specific alleles underlying variation in quantitative traits is an important goal for evolutionary biologists and breeders.
Bauerle, William L. +8 more
core +3 more sources
Using Gene Expression to Annotate Cardiovascular GWAS Loci
Genetic variants at hundreds of loci associated with cardiovascular phenotypes have been identified by genome wide association studies. Most of these variants are located in intronic or intergenic regions rendering the functional and mechanistic follow ...
Matthias Heinig, Matthias Heinig
doaj +1 more source
Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart. [PDF]
In recent years genome-wide association studies (GWAS) have uncovered numerous chromosomal loci associated with various electrocardiographic traits and cardiac arrhythmia predisposition.
Tamara T Koopmann +14 more
doaj +1 more source
A Common Variant in CLDN14 is Associated with Primary Biliary Cirrhosis and Bone Mineral Density. [PDF]
Primary biliary cirrhosis (PBC), a chronic autoimmune liver disease, has been associated with increased incidence of osteoporosis. Intriguingly, two PBC susceptibility loci identified through genome-wide association studies are also involved in bone ...
Bian, Zhaolian +18 more
core +2 more sources
Lung squamous cell carcinoma (LUSC) is one of the most common types of non-small cell lung cancer with poor prognosis. Druggable genome-wide Mendelian randomization (MR) was conducted to discover LUSC-related targets using expression quantitative trait ...
Shizhao Cheng +3 more
doaj +1 more source
The evolution of genetic architectures underlying quantitative traits
In the classic view introduced by R. A. Fisher, a quantitative trait is encoded by many loci with small, additive effects. Recent advances in QTL mapping have begun to elucidate the genetic architectures underlying vast numbers of phenotypes across ...
Plotkin, Joshua B., Rajon, Etienne
core +1 more source

