A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets.

ABSTRACT:

Background

The identification of disease-causing variants in autosomal dominant diseases using exome-sequencing data remains a difficult task in small pedigrees. We combined several strategies to improve filtering and prioritizing of heterozygous variants using exome-sequencing datasets in familial Meniere disease: an in-house Pathogenic Variant (PAVAR) score, the Variant Annotation Analysis and Search Tool (VAAST-Phevor), Exomiser-v2, CADD, and FATHMM. We also validated the method by a benchmarking procedure including causal mutations in synthetic exome datasets.

Results

PAVAR and VAAST were able to select the same sets of candidate variants independently of the studied disease. In contrast, Exomiser V2 and VAAST-Phevor had a variable correlation depending on the phenotypic

SUBMITTER: Requena T 

PROVIDER: S-EPMC5441048 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature