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Article

The individual and global impact of copy-number variants on complex human traits.

American journal of human genetics - 7 Apr 2022

Auwerx Chiara, Lepamets Maarja, Sadler Marie C, Patxot Marion, Stojanov Miloš, Baud David, Mägi Reedik, Porcu Eleonora, Reymond Alexandre, Kutalik Zoltán

Abstract excerpt

The impact of copy-number variations (CNVs) on complex human traits remains understudied. We called CNVs in 331,522 UK Biobank participants and performed genome-wide association studies (GWASs) between the copy number of CNV-proxy probes and 57 continuous traits, revealing 131 signals spanning 47 phenotypes. Our analysis recapitulated well-known associations (e.g., 1q21 and height), revealed the pleiotropy of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35240056
DOI: 10.1016/j.ajhg.2022.02.010
PMCID: PMC9069145

Provenance

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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