From GWAS to gene: transcriptome-wide association studies and other methods to functionally understand GWAS discoveries

B Li, MD Ritchie - Frontiers in genetics, 2021 - frontiersin.org
Since their inception, genome-wide association studies (GWAS) have identified more than a
hundred thousand single nucleotide polymorphism (SNP) loci that are associated with …

Map** complex disease traits with global gene expression

W Cookson, L Liang, G Abecasis, M Moffatt… - Nature Reviews …, 2009 - nature.com
Variation in gene expression is an important mechanism underlying susceptibility to
complex disease. The simultaneous genome-wide assay of gene expression and genetic …

Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS

DL Nicolae, E Gamazon, W Zhang, S Duan… - PLoS …, 2010 - journals.plos.org
Although genome-wide association studies (GWAS) of complex traits have yielded more
reproducible associations than had been discovered using any other approach, the loci …

A genome-wide scan for common alleles affecting risk for autism

R Anney, L Klei, D Pinto, R Regan… - Human molecular …, 2010 - academic.oup.com
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the
known genetic risk has been traced to rare variants, principally copy number variants …

Inherited GATA3 variants are associated with Ph-like childhood acute lymphoblastic leukemia and risk of relapse

V Perez-Andreu, KG Roberts, RC Harvey, W Yang… - Nature …, 2013 - nature.com
Recent genomic profiling of childhood acute lymphoblastic leukemia (ALL) identified a high-
risk subtype with an expression signature resembling that of Philadelphia chromosome …

Sherlock: detecting gene-disease associations by matching patterns of expression QTL and GWAS

X He, CK Fuller, Y Song, Q Meng, B Zhang… - The American Journal of …, 2013 - cell.com
Genetic map** of complex diseases to date depends on variations inside or close to the
genes that perturb their activities. A strong body of evidence suggests that changes in gene …

The asthma-associated ORMDL3 gene product regulates endoplasmic reticulum-mediated calcium signaling and cellular stress

G Cantero-Recasens, C Fandos… - Human molecular …, 2010 - academic.oup.com
Alterations of protein folding or Ca2+ levels within the endoplasmic reticulum (ER) result in
the unfolded-protein response (UPR), a process considered as an endogenous inducer of …

SCAN: SNP and copy number annotation

ER Gamazon, W Zhang, A Konkashbaev, S Duan… - …, 2010 - academic.oup.com
Motivation: Genome-wide association studies (GWAS) generate relationships between
hundreds of thousands of single nucleotide polymorphisms (SNPs) and complex …

Genetics of human gene expression: map** DNA variants that influence gene expression

VG Cheung, RS Spielman - Nature Reviews Genetics, 2009 - nature.com
There is extensive natural variation in human gene expression. As quantitative phenotypes,
expression levels of genes are heritable. Genetic linkage and association map** have …

Clinically relevant genetic variations in drug metabolizing enzymes

N Pinto, M Eileen Dolan - Current drug metabolism, 2011 - ingentaconnect.com
In the field of pharmacogenetics, we currently have a few markers to guide physicians as to
the best course of therapy for patients. For the most part, these genetic variants are within a …