Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform.

ABSTRACT: Hearing loss is a highly heterogeneous disease presented with various phenotypes. Genetic testing of disease-causing mutations plays an important role in precise diagnosis and fertility guidance of heredity hearing loss. Here we reported an effective method employing target enrichment and BGISEQ-500 platform to detect clinically relevant alterations for heredity hearing patients in a single assay.In this study, we designed an array based chip, containing 127 genes related to hearing loss. Then we conducted targeted next-generation sequencing toward 58 patients to make a precise diagnosis using BGISEQ-500 platform.We successfully detected disease-causing mutations in 77.59% (45/58) of the patients with hearing loss. Finally, a total of 62 disease-causing mutations were identified, including

SUBMITTER: Sun Y 

PROVIDER: S-EPMC6709004 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature