Article

A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank

2025-08-07

Abstract excerpt

Using genome sequencing read depth, we genotyped CNVs within the UK Biobank and performed PheWAS, identifying 501 CNVs associated with 1,537 traits. We detected signals with mosaic, recurrent and multiallelic CNVs that are difficult to genotype using other methods, such as a coding repeat within mucin 1 associated with stomach/duodenal polyps and copy number of salivary amylase genes associated with denture use. W...

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Literature Corpus work: 362f0cd6-7cd4-5b22-9be0-07339b07572b
DOI: 10.1101/2025.08.05.25333035

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