The eQTLGen Consortium has been set up to identify the downstream consequences of trait-related genetic variants. The consortium incorporates 37 datasets, with a total of 31,684 individuals. You can find the cis-eQTL, trans-eQTL, eQTS and replication results from our forthcoming paper on this website.

An eQTL is a locus that explains a fraction of the genetic variance of a gene expression phenotype. Standard eQTL analysis involves a direct association test between markers of genetic variation with gene expression levels typically measured in tens or hundreds of individuals.

Expression quantitative trait loci (eQTL) are genetic loci that explain variation in expression levels of mRNAs. Another way to understand the effects of a genetic locus is to determine which gene is affected in specific tissues by studying eQTL.

Expression quantitative trait loci (eQTL) analysis seeks to identify genetic variants that affect the expression of one or more genes: a gene-SNP pair for which the expression of the gene is associated with the allelic configuration of the SNP is referred to as an eQTL.

The eQTL Catalogue aims to provide uniformly processed gene expression and splicing QTLs from all available public studies on human. Quantitative trait loci (QTL) are genomic variants that are significantly associated to a measurable phenotype.

Here we describe “opposite eQTL effects”, i.e., gene expression effects of eQTLs that are in the opposite direction between different tissues, as the biologically meaningful annotations of genes and genetic variants for understanding the GWAS loci.

2021年9月6日 · Nature Genetics - The eQTL Catalogue provides uniform processing of 21 eQTL studies, allowing the identification of highly reproducible eQTLs affecting whole gene and transcript expression...

Here we explain the eQTL analysis pipeline, we introduce publicly available tools for the statistical analysis, and we discuss issues that might complicate the eQTL mapping process. The detection and interpretation of eQTL requires careful consideration of …

2025年2月20日 · Genetic variants that regulate gene expression, known as expression quantitative trait loci (eQTL), are primarily shaped by human migration history and evolutionary forces, likewise, regulation of gene expression in principle could have been influenced by …

Regulatory quantitative trait locus (QTL) mapping is a powerful approach that can connect disease-associated variants to gene regulatory mechanisms (see Box 1).