Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

ABSTRACT:

Background

Human exome sequencing is a recently developed tool to aid in the discovery of novel coding variants. Now broadly applied, exome sequencing data sets provide a novel opportunity to evaluate the allele frequencies of previously published pathogenic rare variants.

Methods and results

We examined the exome data set from the National Heart, Lung and Blood Institute Exome Sequencing Project and compared this data set with a catalog of 197 previously published rare variants reported as causative of dilated cardiomyopathy (DCM) from familial and sporadic cases. Of these 197, 33 (16.8%) were also present in the Exome Sequencing Project database, raising the question of whether they were uncommon polymorphisms. Supporting functional data has been published for 14 of the 33

SUBMITTER: Norton N 

PROVIDER: S-EPMC3332064 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature