Article

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

2022-09-23

Abstract excerpt

<h4>ABSTRACT</h4> 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 using CNV calls from genotyping array. We mapped 236 Human Phenotype Ontology terms linked to any of the 90 genes encomp...

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Literature Corpus work: a9cce3af-6e23-56cd-bd28-987d8de4108d
DOI: 10.1101/2022.09.21.22280207

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