Article
Mono- and biallelic variant effects on disease at biobank scale.
Nature - 1 Jan 2023
Heyne H O, Karjalainen J, Karczewski K J, Lemmelä S M, Zhou W, Havulinna A S, Kurki M, Rehm H L, Palotie A, Daly M J
Abstract excerpt
Identifying causal factors for Mendelian and common diseases is an ongoing challenge in medical genetics1. Population bottleneck events, such as those that occurred in the history of the Finnish population, enrich some homozygous variants to higher frequencies, which facilitates the identification of variants that cause diseases with recessive inheritance2,3. Here we examine the homozygous and heterozygous...
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