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Article

De novo variants are a common cause of genetic hearing loss.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2022

Klimara Miles J, Nishimura Carla, Wang Donghong, Kolbe Diana L, Schaefer Amanda M, Walls William D, Frees Kathy L, Smith Richard J H, Azaiez Hela

Abstract excerpt

PURPOSE: De novo variants (DNVs) are a well-recognized cause of genetic disorders. The contribution of DNVs to hearing loss (HL) is poorly characterized. We aimed to evaluate the rate of DNVs in HL-associated genes and assess their contribution to HL. METHODS: Targeted genomic enrichment and massively parallel sequencing were used for molecular testing of all exons and flanking intronic sequences of known...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36194208
DOI: 10.1016/j.gim.2022.08.028
PMCID: PMC9729384

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