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Phenome-wide association of multiallelic copy number variation in 422,170 UK Biobank individuals reveals novel genetic loci associated with disease

2026-06-04

Abstract excerpt

The contribution of multi-allelic CNVs (mCNVs) to disease risk has not been widely studied. This is largely because they have been difficult to characterise at a large-scale genome-wide, and are often not strongly associated with flanking SNVs, limiting imputation. Improved understanding of the role of mCNVs in disease risk could lead to novel insights into the pathobiology of disease. We robustly typed 69 mCNVs f...

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Literature Corpus work: 9221b5bd-ae4d-5a40-beab-b60584e267b5
DOI: 10.64898/2026.06.03.26354825

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