Next-generation sequencing in genetic hearing loss

Research output: Contribution to journalReview articlepeer-review

27 Scopus citations


The advent of the $1000 genome has the potential to revolutionize the identification of genes and their mutations underlying genetic disorders. This is especially true for extremely heterogeneous Mendelian conditions such as deafness, where the mutation, and indeed the gene, may be private. The recent technological advances in target-enrichment methods and next generation sequencing offer a unique opportunity to break through the barriers of limitations imposed by gene arrays. These approaches now allow for the complete analysis of all known deafness-causing genes and will result in a new wave of discoveries of the remaining genes for Mendelian disorders. In this review, we describe commonly used genomic technologies as well as the application of these technologies to the genetic diagnosis of hearing loss (HL) and to the discovery of novel genes for syndromic and nonsyndromic HL.

Original languageEnglish (US)
Pages (from-to)581-587
Number of pages7
JournalGenetic Testing and Molecular Biomarkers
Issue number8
StatePublished - Aug 1 2013

ASJC Scopus subject areas

  • Genetics(clinical)


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