Genomic advances for gene discovery in hereditary hearing loss

Karen B. Avraham, Moien Kanaan

Research output: Contribution to journalReview articlepeer-review

Abstract

High-throughput sequencing is changing the face of genetic diagnosis and counseling. While in the past, it would take on average 1 to 5 years to identify a mutation leading to deafness, today, the genetic basis for deafness can be determined within months in a child or adult with inherited hearing loss. Obstacles and challenges still remain, but the field is changing at a dramatic rate, making gene discovery a much easier and more efficient task than in the past.

Original languageEnglish
Pages (from-to)93-97
Number of pages5
JournalJournal of Basic and Clinical Physiology and Pharmacology
Volume23
Issue number3
DOIs
StatePublished - Sep 2012

Keywords

  • Consanguineous
  • Deafness
  • Homozygosity mapping
  • Massively parallel sequencing
  • Next-generation sequencing

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