New CEHG Publication: RNA splicing is a primary link between genetic variation and disease

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Read the article!

Congratulations to CEHG community members Yang Li and Jonathan Pritchard, along with Bryce can de Geijn, Anil Raj, Allegra Petti, David Golan, Yoav Gilad, and David Knowles, for the publication of their study, “RNA splicing is a primary link between genetic variation and disease” in Science on April 29, 2016!


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 novel method, we also detected 2893 splicing QTLs, most of which have little or no effect on gene-level expression. These splicing QTLs are major contributors to complex traits, roughly on a par with variants that affect gene expression levels. Our study provides a comprehensive view of the mechanisms linking genetic variation to variation in human gene regulation.

Read the article!

For further reading: 

University of Chicago Medical Center. “RNA splicing mutations play major role in genetic variation and disease.” Science Daily. April 18, 2016.


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