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The impact of rare pathogenic CNVs is exacerbated by assortative mating.
2025-09-12
genetic and genomic medicine
Title + abstract only
View on medRxiv
Show abstract
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 individuals 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 training set (n = 264,372) to derive independent PGS weights, and a CNV-carrier-enriche...
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