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Article

RNA splicing is a primary link between genetic variation and disease.

Science (New York, N.Y.) - 29 Apr 2016

Li Yang I, van de Geijn Bryce, Raj Anil, Knowles David A, Petti Allegra A, Golan David, Gilad Yoav, Pritchard Jonathan K

Abstract excerpt

Noncoding variants play a central role in the genetics of complex traits, but we still lack a full understanding of the molecular pathways through which they act. We quantified the contribution of cis-acting genetic effects at all major stages of gene regulation from chromatin to proteins, in Yoruba lymphoblastoid cell lines (LCLs). About ~65% of expression quantitative trait loci (eQTLs) have primary effects on...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27126046
DOI: 10.1126/science.aad9417
PMCID: PMC5182069

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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