Journal
SCIENCE
Volume 352, Issue 6285, Pages 600-604Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.aad9417
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Funding
- NIH [R01MH084703, R01MH101825, U01HG007036, U54CA149145]
- Center for Computational, Evolutionary and Human Genomics Fellowship
- Howard Hughes Medical Institute
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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 similar to 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.
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