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Journal of Basic and Clinical Physiology and Pharmacology

Editor-in-Chief: Horowitz, Michal

Editorial Board: Das, Kusal K. / Epstein, Yoram / S. Gershon MD, Elliot / Kodesh , Einat / Kohen, Ron / Lichtstein, David / Maloyan, Alina / Mechoulam, Raphael / Roth, Joachim / Schneider, Suzanne / Shohami, Esther / Sohmer, Haim / Yoshikawa, Toshikazu / Tam, Joseph


CiteScore 2016: 1.01

SCImago Journal Rank (SJR) 2016: 0.349
Source Normalized Impact per Paper (SNIP) 2016: 0.495

Online
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2191-0286
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Volume 23, Issue 3

Issues

Genomic advances for gene discovery in hereditary hearing loss

Karen B. Avraham
  • Corresponding author
  • Sackler Faculty of Medicine, Department of Human Molecular Genetics and Biochemistry, Tel Aviv University, Tel Aviv, Israel
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Published Online: 2012-09-07 | DOI: https://doi.org/10.1515/jbcpp-2012-0033

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

About the article

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


Citation Information: , Volume 23, Issue 3, Pages 93–97, ISSN (Online) 2191-0286, ISSN (Print) 0792-6855, DOI: https://doi.org/10.1515/jbcpp-2012-0033.

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