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Article

Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome.

Nature communications - 1 Feb 2021

Garrido-Martín Diego, Borsari Beatrice, Calvo Miquel, Reverter Ferran, Guigó Roderic

Abstract excerpt

Alternative splicing (AS) is a fundamental step in eukaryotic mRNA biogenesis. Here, we develop an efficient and reproducible pipeline for the discovery of genetic variants that affect AS (splicing QTLs, sQTLs). We use it to analyze the GTEx dataset, generating a comprehensive catalog of sQTLs in the human genome. Downstream analysis of this catalog provides insight into the mechanisms underlying splicing...

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Identifiers

PMID: 33526779
DOI: 10.1038/s41467-020-20578-2
PMCID: PMC7851174

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