Article

Quantifying the contribution of recessive coding variation to developmental disorders

2017-10-13

Abstract excerpt

Large exome-sequencing datasets offer an unprecedented opportunity to understand the genetic architecture of rare diseases, informing clinical genetics counseling and optimal study designs for disease gene identification. We analyzed 7,448 exome-sequenced families from the Deciphering Developmental Disorders study, and, for the first time, estimated the causal contribution of recessive coding variation exome-wide....

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Literature Corpus work: 4ed2ed8c-553a-5657-bf65-817126a6ebed
DOI: 10.1101/201533

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