Pathogenicity and selective constraint on variation near splice sites
Jenny Lord, Giuseppe Gallone, Patrick Short, Jeremy F. McRae, Holly Ironfield, Elizabeth H. Wynn, Sebastian S. Gerety, Liu He, Bronwyn A. Kerr, Diana S. Johnson, Emma McCann, Esther Kinning, Frances A. Flinter, I. Karen Temple, Jill Clayton‐Smith, , on behalf of the Deciphering Developmental Disorders study
The paper analyzes exome sequencing data to assess the contribution of splice site mutations to developmental disorders and estimates their pathogenicity and underrepresentation in public databases.
Genome Research · Feb 1, 2019Peer-reviewedGenetics