Genomics

Dataset Information

118

Homo sapiens


ABSTRACT: 4sU metabolic labeled transcripts in 65 YRI LCLs

ORGANISM(S): Homo sapiens  

PROVIDER: PRJNA302818 | ENA |

REPOSITORIES: ENA

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Publications

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

Li Yang I YI   van de Geijn Bryce B   Raj Anil A   Knowles David A DA   Petti Allegra A AA   Golan David D   Gilad Yoav Y   Pritchard Jonathan K JK  

Science (New York, N.Y.) 20160428 6285


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 chromatin, whereas the remaining eQTLs are enriched in transcribed regions. Using a  ...[more]

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