Testing the role of predicted gene knockouts in human anthropometric trait variation.

doi:10.1093/hmg/ddw055

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Article

Testing the role of predicted gene knockouts in human anthropometric trait variation.

Human molecular genetics - 15 May 2016

Lessard Samuel, Manning Alisa K, Low-Kam Cécile, Auer Paul L, Giri Ayush, Graff Mariaelisa, Schurmann Claudia, Yaghootkar Hanieh, Luan Jian'an, Esko Tonu, Karaderi Tugce, Bottinger Erwin P, Lu Yingchang, Carlson Chris, Caulfield Mark, Dubé Marie-Pierre, Jackson Rebecca D, Kooperberg Charles, McKnight Barbara, Mongrain Ian, Peters Ulrike, Reiner Alex P, Rhainds David, Sotoodehnia Nona, Hirschhorn Joel N, Scott Robert A, Munroe Patricia B, Frayling Timothy M, Loos Ruth J F, North Kari E, Edwards Todd L, Tardif Jean-Claude, Lindgren Cecilia M, Lettre Guillaume

Abstract excerpt

Although the role of complete gene inactivation by two loss-of-function mutations inherited in trans is well-established in recessive Mendelian diseases, we have not yet explored how such gene knockouts (KOs) could influence complex human phenotypes. Here, we developed a statistical framework to test the association between gene KOs and quantitative human traits. Our method is flexible, publicly available, and...

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Identifiers

PMID: 26908616
DOI: 10.1093/hmg/ddw055
PMCID: PMC5062577

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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