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Article

Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs.

Nature communications - 7 Jun 2021

Wang Qingbo S, Kelley David R, Ulirsch Jacob, Kanai Masahiro, Sadhuka Shuvom, Cui Ran, Albors Carlos, Cheng Nathan, Okada Yukinori, Aguet Francois, Ardlie Kristin G, MacArthur Daniel G, Finucane Hilary K

Abstract excerpt

The large majority of variants identified by GWAS are non-coding, motivating detailed characterization of the function of non-coding variants. Experimental methods to assess variants' effect on gene expressions in native chromatin context via direct perturbation are low-throughput. Existing high-throughput computational predictors thus have lacked large gold standard sets of regulatory variants for training and...

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PMID: 34099641
DOI: 10.1038/s41467-021-23134-8
PMCID: PMC8184741

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