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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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Detalles Bibliográficos
Autores principales:	Need, Anna C, Shashi, Vandana, Hitomi, Yuki, Schoch, Kelly, Shianna, Kevin V, McDonald, Marie T, Meisler, Miriam H, Goldstein, David B
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Group 2012
Materias:	New Disease Loci
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3375064/ https://www.ncbi.nlm.nih.gov/pubmed/22581936 http://dx.doi.org/10.1136/jmedgenet-2012-100819

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