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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Whole-exome sequencing and its impact in hereditary hearing loss
Tahir Atik1, Guney Bademci1, Oscar Diaz-Horta1
1Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics,Miller School of Medicine,University of Miami,USA.
Abstract:
Next-generation sequencing (NGS) technologies have played a central role in the genetic revolution. These technologies, especially whole-exome sequencing, have become the primary tool of geneticists to identify the causative DNA variants in Mendelian disorders, including hereditary deafness. Current research estimates that 1% of all human genes have a function in hearing. To date, mutations in over 80 genes have been reported to cause nonsyndromic hearing loss (NSHL). Strikingly, more than a quarter of all known genes related to NSHL were discovered in the past 5 years via NGS technologies. In this article, we review recent developments in the usage of NGS for hereditary deafness, with an emphasis on whole-exome sequencing.
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