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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Detalles Bibliográficos
Autores principales: Sirmaci, Asli, Edwards, Yvonne J. K., Akay, Hatice, Tekin, Mustafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3283682/
https://www.ncbi.nlm.nih.gov/pubmed/22363784
http://dx.doi.org/10.1371/journal.pone.0032000

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3283682/
https://www.ncbi.nlm.nih.gov/pubmed/22363784
http://dx.doi.org/10.1371/journal.pone.0032000

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