Clinical application of exome sequencing in undiagnosed genetic conditions

BACKGROUND: There is considerable interest in the use of next-generation sequencing to help diagnose unidentified genetic conditions, but it is difficult to predict the success rate in a clinical setting that includes patients with a broad range of phenotypic presentations. METHODS: The authors pres...

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Detalhes bibliográficos
Main Authors: Need, Anna C, Shashi, Vandana, Hitomi, Yuki, Schoch, Kelly, Shianna, Kevin V, McDonald, Marie T, Meisler, Miriam H, Goldstein, David B
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2012
Assuntos:
New Disease Loci
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3375064/
https://ncbi.nlm.nih.gov/pubmed/22581936
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-100819
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