Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanks.

Abstract excerpt

Loss-of-function variants (LoFs) can result in severe clinical phenotypes, including both autosomal-recessive and -dominant Mendelian diseases. Except for a handful of unusually common variants, however, their lifetime risk for disease expression is unknown. This is particularly true for LoFs in genes linked to autosomal-dominant diseases driven by haploinsufficiency, which represent some of the most common...

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