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

Autor: Kerimov N; Institute of Computer Science, University of Tartu, Tartu, Estonia.; Open Targets, Wellcome Genome Campus, Cambridge, UK., Hayhurst JD; Open Targets, Wellcome Genome Campus, Cambridge, UK.; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK., Peikova K; Institute of Computer Science, University of Tartu, Tartu, Estonia., Manning JR; Open Targets, Wellcome Genome Campus, Cambridge, UK.; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK., Walter P; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK., Kolberg L; Institute of Computer Science, University of Tartu, Tartu, Estonia., Samoviča M; Institute of Computer Science, University of Tartu, Tartu, Estonia., Sakthivel MP; Open Targets, Wellcome Genome Campus, Cambridge, UK.; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK., Kuzmin I; Institute of Computer Science, University of Tartu, Tartu, Estonia., Trevanion SJ; Open Targets, Wellcome Genome Campus, Cambridge, UK.; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK., Burdett T; Open Targets, Wellcome Genome Campus, Cambridge, UK.; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK., Jupp S; Open Targets, Wellcome Genome Campus, Cambridge, UK.; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK., Parkinson H; Open Targets, Wellcome Genome Campus, Cambridge, UK.; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK., Papatheodorou I; Open Targets, Wellcome Genome Campus, Cambridge, UK.; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK., Yates AD; Open Targets, Wellcome Genome Campus, Cambridge, UK.; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK., Zerbino DR; Open Targets, Wellcome Genome Campus, Cambridge, UK. zerbino@ebi.ac.uk.; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK. zerbino@ebi.ac.uk., Alasoo K; Institute of Computer Science, University of Tartu, Tartu, Estonia. kaur.alasoo@ut.ee.; Open Targets, Wellcome Genome Campus, Cambridge, UK. kaur.alasoo@ut.ee.
Jazyk: angličtina
Zdroj: Nature genetics [Nat Genet] 2021 Sep; Vol. 53 (9), pp. 1290-1299. Date of Electronic Publication: 2021 Sep 06.
DOI: 10.1038/s41588-021-00924-w
Abstrakt: 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 identified a greater diversity of cell-type-specific QTLs from purified cell types, a subset of which also manifested as new disease co-localizations. Our summary statistics are freely available to enable the systematic interpretation of human GWAS associations across many cell types and tissues.
(© 2021. The Author(s).)
Databáze: MEDLINE
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