Article

Pathogenicity and selective constraint on variation near splice sites

2018-01-30

Abstract excerpt

Mutations which perturb normal pre-mRNA splicing are significant contributors to human disease. We used exome sequencing data from 7,833 probands with developmental disorders (DD) and their unaffected parents, as well as >60,000 aggregated exomes from the Exome Aggregation Consortium, to investigate selection around the splice site, and quantify the contribution of splicing mutations to DDs. Patterns of purifying...

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Literature Corpus work: e7457683-d2c4-5089-a581-ca503525e3b8
DOI: 10.1101/256636

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