Results 171 to 180 of about 48,393 (270)

Haplotype‐Based Analysis of OCA2 Variants in Oculocutaneous Albinism

Pigment Cell &Melanoma Research, Volume 39, Issue 3, May 2026.
This study defines multi‐allele haplotypes, comprised of rare disease variants combined with common eQTL, sQTL and GWAS variants, for oculocutaneous albinism type 2 (OCA2). These haplotypes have implications for variant pathogenicity assessments and phenotypic variability.
Meredith F. Gillis, Madeleine R. Ames, Linnea Lundh, Valer Gotea, Laura Elnitski, Frank Donovan, NISC Comparative Sequencing Program, Adebowale Adeyemo, Charles Rotimi, Brian Brooks, Wadih Zein, William Gahl, William S. Oetting, David R. Adams, Stacie K. Loftus   +14 more
wiley   +1 more source

PICALO: principal interaction component analysis for the identification of discrete technical, cell-type, and environmental factors that mediate eQTLs

Genome Biology
Expression quantitative trait loci (eQTL) offer insights into the regulatory mechanisms of trait-associated variants, but their effects often rely on contexts that are unknown or unmeasured.
Martijn Vochteloo, Patrick Deelen, Britt Vink, BIOS Consortium, Ellen A. Tsai, Heiko Runz, Sergio Andreu-Sánchez, Jingyuan Fu, Alexandra Zhernakova, Harm-Jan Westra, Lude Franke   +10 more
doaj   +1 more source

An atlas of single-cell eQTLs dissects autoimmune disease genes and identifies novel drug classes for treatment

Cell Genomics
Summary: Most variants identified from genome-wide association studies (GWASs) are non-coding and regulate gene expression. However, many risk loci fail to colocalize with expression quantitative trait loci (eQTLs), potentially due to limited GWAS and ...
Lida Wang, Havell Markus, Dieyi Chen, Siyuan Chen, Fan Zhang, Shuang Gao, Chachrit Khunsriraksakul, Fang Chen, Nancy Olsen, Galen Foulke, Bibo Jiang, Laura Carrel, Dajiang J. Liu   +12 more
doaj   +1 more source

Disease heritability explained by eQTLs [PDF]

Nature Methods, 2020
openaire   +2 more sources

Fast Genome-Wide QTL Analysis Using Mendel

, 2014
Pedigree GWAS (Option 29) in the current version of the Mendel software is an optimized subroutine for performing large scale genome-wide QTL analysis.
Hu, Tao, Lange, Kenneth, Sobel, Eric M, Zhou, Hua, Zhou, Jin   +4 more
core  

Identification of blood eQTLs in older adults

Gene
Genome-wide association studies (GWAS) have been successful in identifying genetic variation associated with a wide range of phenotypes. However, more detailed knowledge of their functional significance is required to provide insights into the molecular mechanisms involved.
Abdulsalam, Toyin, Karen A, Mather, Nicola J, Armstrong, Liliana G, Ciobanu, Bernhard T, Baune, John B, Kwok, Peter R, Schofield, David, Ames, Julian N, Trollor, Perminder S, Sachdev, Anbupalam, Thalamuthu   +10 more
openaire   +2 more sources

Scalable eQTL mapping using single-nucleus RNA-sequencing of recombined gametes from a small number of individuals.

PLoS Biology
Phenotypic differences between individuals of a species are often caused by differences in gene expression, which are in turn caused by genetic variation.
Matthew T Parker, Samija Amar, José A Campoy, Kristin Krause, Sergio Tusso, Magdalena Marek, Bruno Huettel, Korbinian Schneeberger   +7 more
doaj   +1 more source

A seedling-stage expression quantitative trait locus atlas across tissues and genetic backgrounds in wheat

Genomics Communications
Delin Li, Shengwei Ma, Jialong Liu, Tiantian Chen, Lei Dong, Fei Ni, Hongjie Li, Qiuhong Wu, Zhiyong Liu   +8 more
doaj   +1 more source

Estimating in silico causal effects of DNA methylation on gene expression through genetic anchors in airway epithelium in asthma. [PDF]

Sci Adv
Kim S, Caldino Bohn RI, Sriram A, Park HJ, Huang Z, Chen W, Celedón JC.   +6 more
europepmc   +1 more source

Higher eQTL power reveals signals that boost GWAS colocalization. [PDF]

Am J Hum Genet
Rosen JD, Broadaway KA, Brotman SM, Mohlke KL, Love MI.   +4 more
europepmc   +1 more source