Genomic advances for gene discovery in hereditary hearing loss

Karen B. Avraham; Moien Kanaan

doi:10.1515/jbcpp-2012-0033

Published by De Gruyter September 7, 2012

Genomic advances for gene discovery in hereditary hearing loss

Karen B. Avraham and Moien Kanaan

From the journal Journal of Basic and Clinical Physiology and Pharmacology

https://doi.org/10.1515/jbcpp-2012-0033

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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.

Keywords: consanguineous; deafness; homozygosity mapping; massively parallel sequencing; next-generation sequencing

Corresponding author: Prof. Karen B. Avraham, Sackler Faculty of Medicine, Department of Human Molecular Genetics and Biochemistry, Tel Aviv University, Tel Aviv 69978, Israel Phone: +972-3-6406642, Fax: +972-3-6409360

Published Online: 2012-09-07

Published in Print: 2012-09-01

Genomic advances for gene discovery in hereditary hearing loss

Abstract

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