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Whole‐exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients

5 Sept 2019

Abstract excerpt

Genetic causes of hearing loss are highly heterogeneous and often ethnically specific. In recent years, a variety of next-generation sequencing (NGS) panels have been developed to target deafness-causative genes. Whole-exome sequencing (WES), on the other hand, was rarely used for genetic testing for deafness. In this study, we performed WES in 38 sporadic Chinese Han deaf patients who have been pre-excluded for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 31486067
DOI: 10.1111/cge.13638

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