Challenges in whole exome sequencing: an example from hereditary deafness.

Challenges in whole exome sequencing: an example from hereditary deafness.

Whole exome sequencing provides unprecedented opportunities to identify causative DNA variants in rare Mendelian disorders. Finding the responsible mutation via traditional methods in families with hearing loss is difficult due to a high degree of genetic heterogeneity. In this study we combined aut...

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Bibliographic Details
Main Authors: Asli Sirmaci, Yvonne J K Edwards, Hatice Akay, Mustafa Tekin
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3283682?pdf=render

Internet

http://europepmc.org/articles/PMC3283682?pdf=render

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