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The Nuanced Negative: Meanings of a Negative Diagnostic Result in Clinical Exome Sequencing

Genomic sequencing technology is moving rapidly from the research setting into clinical medicine but significant technological and interpretive challenges remain. Whole exome sequencing (WES) in its recent clinical application provides a genetic diagnosis in about 25% of cases (Berg 2014). While thi...

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Detalhes bibliográficos
Publicado no:Sociol Health Illn
Main Authors: Skinner, Debra, Raspberry, Kelly A., King, Martha
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5089912/
https://ncbi.nlm.nih.gov/pubmed/27538589
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/1467-9566.12460
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