A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.

ABSTRACT: Rapid identification of clinically significant variants is key to the successful application of next generation sequencing technologies in clinical practice. The Melbourne Genomics Health Alliance (MGHA) variant prioritization framework employs a gene prioritization index based on clinician-generated a priori gene lists, and a variant prioritization index (VPI) based on rarity, conservation and protein effect. We used data from 80 patients who underwent singleton whole exome sequencing (WES) to test the ability of the framework to rank causative variants highly, and compared it against the performance of other gene and variant prioritization tools. Causative variants were identified in 59 of the patients. Using the MGHA prioritization framework the average rank of the causative variant was

SUBMITTER: Stark Z 

PROVIDER: S-EPMC5643958 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature