Article

The impact of rare pathogenic CNVs is exacerbated by assortative mating

2025-09-12

Abstract excerpt

Copy-number variants (CNVs) are linked to a spectrum of outcomes and carriers of the same variant exhibit variable disease severity. We explored the impact of an individual’s polygenic score (PGS) on explaining these differences, focusing on 119 established CNV-trait associations involving 43 clinically-relevant phenotypes. We called CNVs among white British UK Biobank participants, then divided samples into a tra...

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Literature Corpus work: 6ad2fba8-642e-54e6-ae4a-78593d24606f
DOI: 10.1101/2025.09.08.25335316

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