Article
Whole-exome sequencing and its impact in hereditary hearing loss.
Genetics research - 31 Mar 2015
Atik Tahir, Bademci Guney, Diaz-Horta Oscar, Blanton Susan H, Tekin Mustafa
Abstract excerpt
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...
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