Lassen FH., Venkatesh SS., Baya N., Hill B., Zhou W., Bloemendal A., Neale BM., Kessler BM., Whiffin N., Lindgren CM., Palmer DS.

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 (MAF

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

Lassen FH., Venkatesh SS., Baya N., Hill B., Zhou W., Bloemendal A., Neale BM., Kessler BM., Whiffin N., Lindgren CM., Palmer DS.

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