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Article

An effector index to predict target genes at GWAS loci.

Human genetics - 1 Aug 2022

Forgetta Vincenzo, Jiang Lai, Vulpescu Nicholas A, Hogan Megan S, Chen Siyuan, Morris John A, Grinek Stepan, Benner Christian, Jang Dong-Keun, Hoang Quy, Burtt Noel, Flannick Jason A, McCarthy Mark I, Fauman Eric, Greenwood Celia M T, Maurano Matthew T, Richards J Brent

Abstract excerpt

Drug development and biological discovery require effective strategies to map existing genetic associations to causal genes. To approach this problem, we selected 12 common diseases and quantitative traits for which highly powered genome-wide association studies (GWAS) were available. For each disease or trait, we systematically curated positive control gene sets from Mendelian forms of the disease and from...

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PMID: 35147782
DOI: 10.1007/s00439-022-02434-z

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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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