A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Sirmaci, Asli, Edwards, Yvonne J. K., Akay, Hatice, Tekin, Mustafa
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3283682/
https://ncbi.nlm.nih.gov/pubmed/22363784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0032000
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!