Article

Heritability of de novo germline mutation reveals a contribution from paternal but not maternal genetic factors

2022-12-17

Abstract excerpt

De novo mutations (DNMs) in the germline have long been identified as a key element in the causes of developmental and other genetic disorders. Previous attempts to investigate genetic factors affecting DNMs have suffered from a lack of statistical power, due to the difficulty of obtaining a sufficient number of parent-offspring trios. Thus, the rare disease cohort of the UK’s 100k Genomes Project (100kGP), compri...

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Literature Corpus work: 38b80941-36b4-5b22-9b84-666b3e6e6bab
DOI: 10.1101/2022.12.17.520885

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