Article

Identification of pathogenic variant enriched regions across genes and gene families

2019-05-17

Abstract excerpt

Missense variant interpretation is challenging. Essential regions for protein function are conserved among gene family members, and genetic variants within these regions are potentially more likely to confer risk to disease. Here, we generated 2,871 gene family protein sequence alignments involving 9,990 genes and performed missense variant burden analyses to identify novel essential protein regions. We mapped 2,2...

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Literature Corpus work: 8ca1f507-aa2a-5090-8bc6-2ab784794710
DOI: 10.1101/641043

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