Article

Association of complex traits with common genetic variation across genomic regions containing pathogenic copy number variations

2024-09-19

Abstract excerpt

<h4>Background</h4> Copy Number Variations (CNVs) are structural variation in the genome, which may impact complex human traits and diseases. The investigation of rare CNVs is impeded by low sample size. To understand the mechanisms through which CNVs influence human health, common variation in the genomic region of the CNV from large samples could be used as a proxy. <h4>Methods</h4> Utilising genome-wide associa...

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Literature Corpus work: d77a09d8-7dfd-52e3-b991-da69e2db05b1
DOI: 10.1101/2024.09.18.24313729

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