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

To ensure a sufficiently large sampling distribution, we restricted our analysis to six nominally significant ( p < 0.05 952 ≈ 5.25 × 10 − 5 ) gene-trait combinations with at least 10 individuals who are either CH variant carriers or with ≥2 pLoF or damaging missense/protein-altering variants on the same haplotype ( STAR Methods ).

also in 7,732 other papers