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Clinical analysis of genome next-generation sequencing data using the Omicia platform

AIMS: Next-generation sequencing is being implemented in the clinical laboratory environment for the purposes of candidate causal variant discovery in patients affected with a variety of genetic disorders. The successful implementation of this technology for diagnosing genetic disorders requires a r...

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Detalhes bibliográficos
Main Authors: Coonrod, Emily M, Margraf, Rebecca L, Russell, Archie, Voelkerding, Karl V, Reese, Martin G
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3828661/
https://ncbi.nlm.nih.gov/pubmed/23895124
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1586/14737159.2013.811907
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