Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.

ABSTRACT:

Background

Cardiomyopathy is highly heritable but genetically diverse. At present, genetic testing for cardiomyopathy uses targeted sequencing to simultaneously assess the coding regions of >50 genes. New genes are routinely added to panels to improve the diagnostic yield. With the anticipated $1000 genome, it is expected that genetic testing will shift toward comprehensive genome sequencing accompanied by targeted gene analysis. Therefore, we assessed the reliability of whole genome sequencing and targeted analysis to identify cardiomyopathy variants in 11 subjects with cardiomyopathy.

Methods and results

Whole genome sequencing with an average of 37× coverage was combined with targeted analysis focused on 204 genes linked to cardiomyopathy. Genetic variants were scored usi

SUBMITTER: Golbus JR 

PROVIDER: S-EPMC4270910 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature