Article
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.
Genome medicine - 2 Feb 2016
James Regis A, Campbell Ian M, Chen Edward S, Boone Philip M, Rao Mitchell A, Bainbridge Matthew N, Lupski James R, Yang Yaping, Eng Christine M, Posey Jennifer E, Shaw Chad A
Abstract excerpt
BACKGROUND: Genome-wide data are increasingly important in the clinical evaluation of human disease. However, the large number of variants observed in individual patients challenges the efficiency and accuracy of diagnostic review. Recent work has shown that systematic integration of clinical phenotype data with genotype information can improve diagnostic workflows and prioritization of filtered rare variants. We...
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