Article

Mono- and bi-allelic effects of coding variants on disease in 176,899 Finns

2021-11-11

Abstract excerpt

Identifying Mendelian diseases with recessive inheritance is challenging as the majority of cases are caused by compound heterozygous genotypes which require sequencing data in families to definitively identify. Bottleneck events, such as in the Finnish population, enrich specific homozygous variants to higher frequencies and thus facilitate identification of disease associations through easily recognized homozygo...

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Literature Corpus work: c8f0dc1b-60f5-5832-ac92-ae4146c2aee5
DOI: 10.1101/2021.11.06.21265920

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