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Article

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

Journal of translational medicine - 12 Nov 2014

Wei Qinjun, Zhu Hongmei, Qian Xuli, Chen Zhibin, Yao Jun, Lu Yajie, Cao Xin, Xing Guangqian

Abstract excerpt

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...

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Identifiers

PMID: 25388789
DOI: 10.1186/s12967-014-0311-1
PMCID: PMC4234825

Genes

ACTG1
COCH
GJB2
TMC1
WFS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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