Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

ABSTRACT:

Background

Hereditary hearing loss is genetically heterogeneous, and hundreds of mutations in than 60 genes are involved in this disease. Therefore, it is difficult to identify the causative gene mutations involved. In this study, we combined targeted genomic capture and massively parallel sequencing (MPS) to address this issue.

Methods

Using targeted genomic capture and MPS, 104 genes and three microRNA regions were selected and simultaneously sequenced in 23 unrelated probands of Chinese families with nonsyndromic hearing loss. The results were validated by Sanger sequencing for all available members of the probands' families. To analyze the possible pathogenic functional effects of the variants, three types of prediction programs (Mutation Taster, PROVEAN and SIFT) were u

SUBMITTER: Wei Q 

PROVIDER: S-EPMC4234825 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature