Article

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

2019-10-16

Abstract excerpt

<h4>Summary</h4> De novo mutations (DNMs) in protein-coding genes are a well-established cause of developmental disorders (DD). However, known DD-associated genes only account for a minority of the observed excess of such DNMs. To identify novel DD-associated genes, we integrated healthcare and research exome sequences on 31,058 DD parent-offspring trios, and developed a simulation-based statistical test to ident...

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Literature Corpus work: 0793ec42-1954-5002-9a9c-c0b33e8acccd
DOI: 10.1101/797787

Open publication

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