Article
Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank.
Cell genomics - 10 Jul 2024
Lassen Frederik H, Venkatesh Samvida S, Baya Nikolas, Hill Barney, Zhou Wei, Bloemendal Alex, Neale Benjamin M, Kessler Benedikt M, Whiffin Nicola, Lindgren Cecilia M, Palmer Duncan S
Abstract excerpt
The phenotypic impact of compound heterozygous (CH) variation has not been investigated at the population scale. We phased rare variants (MAF ∼0.001%) in the UK Biobank (UKBB) exome-sequencing data to characterize recessive effects in 175,587 individuals across 311 common diseases. A total of 6.5% of individuals carry putatively damaging CH variants, 90% of which are only identifiable upon phasing rare variants...
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