Article

Quantifying concordant genetic effects of <i>de novo</i> mutations on multiple disorders

2021-06-14

Abstract excerpt

Exome sequencing on tens of thousands of parent-proband trios has identified numerous deleterious de novo mutations (DNMs) and implicated risk genes for many disorders. Recent studies have suggested shared genes and pathways are enriched for DNMs across multiple disorders. However, existing analytic strategies only focus on genes that reach statistical significance for multiple disorders and require large trio sa...

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Literature Corpus work: 08c669e0-4b0d-5283-bdb2-1e086ff4e0eb
DOI: 10.1101/2021.06.13.448234

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