Pulse Brain · Growing Health Evidence Index
Peer-reviewed

A compendium of uniformly processed human gene expression and splicing quantitative trait loci

Nurlan Kerimov, James Hayhurst, Kateryna Peikova, Jonathan Manning, Peter Walter, Liis Kolberg, Marija Samoviča, Manoj Pandian Sakthivel, Ivan Kuzmin, Stephen J. Trevanion, Tony Burdett, Simon Jupp, Helen Parkinson, Irene Papatheodorou, Andrew Yates, Daniel R. Zerbino, Kaur Alasoo

Nature Genetics · 2021

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Summary

Many gene expression quantitative trait locus (eQTL) studies have published their summary statistics, which can be used to gain insight into complex human traits by downstream analyses, such as fine mapping and co-localization. However, technical differences between these datasets are a barrier to their widespread use. Consequently, target genes for most genome-wide association study (GWAS) signals have still not been identified. In the present study, we present the eQTL Catalogue ( https://www.ebi.ac.uk/eqtl ), a resource of quality-controlled, uniformly re-computed gene expression and splicing QTLs from 21 studies. We find that, for matching cell types and tissues, the eQTL effect sizes are highly reproducible between studies. Although most QTLs were shared between most bulk tissues, we

Source type
Peer-reviewed study
DOI
10.1038/s41588-021-00924-w
Catalogue ID
SNmohdw8m6-75e1sn
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