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Article

The impact of 22q11.2 copy-number variants on human traits in the general population.

American journal of human genetics - 2 Feb 2023

Zamariolli Malú, Auwerx Chiara, Sadler Marie C, van der Graaf Adriaan, Lepik Kaido, Schoeler Tabea, Moysés-Oliveira Mariana, Dantas Anelisa G, Melaragno Maria Isabel, Kutalik Zoltán

Abstract excerpt

While extensively studied in clinical cohorts, the phenotypic consequences of 22q11.2 copy-number variants (CNVs) in the general population remain understudied. To address this gap, we performed a phenome-wide association scan in 405,324 unrelated UK Biobank (UKBB) participants by using CNV calls from genotyping array. We mapped 236 Human Phenotype Ontology terms linked to any of the 90 genes encompassed by the...

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Identifiers

PMID: 36706759
DOI: 10.1016/j.ajhg.2023.01.005
PMCID: PMC9943723

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