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Article

Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families.

Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2022

Pan Jianyan, Ma Shanshan, Teng Yanling, Liang Desheng, Li Zhuo, Wu Lingqian

Abstract excerpt

BACKGROUND: Hearing loss is a group of diseases with high genetic heterogeneity. About 160 genes have been reported to be associated with hereditary hearing loss. METHODS: 113 families with hearing loss were collected, and WES was used to detect SNV, InDel, CNV and mitochondrial gene variants. For some probands with negative WES test results, the copy number of STRC and OTOA were determined by using real-time...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35640668
DOI: 10.1016/j.cca.2022.05.020

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