Article

Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank

2023-07-03

Abstract excerpt

Exome-sequencing association studies have successfully linked rare protein-coding variation to risk of thousands of diseases. However, the relationship between rare deleterious compound heterozygous (CH) variation and their phenotypic impact has not been fully investigated. Here, we leverage advances in statistical phasing to accurately phase rare variants (MAF ∼ 0.001%) in exome sequencing data from 175,587 UK Bi...

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Literature Corpus work: b02e8f32-1f18-55a3-967c-746ae0887e54
DOI: 10.1101/2023.06.29.23291992

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