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Analytical validation of whole exome and whole genome sequencing for clinical applications

BACKGROUND: Whole exome and genome sequencing (WES/WGS) is now routinely offered as a clinical test by a growing number of laboratories. As part of the test design process each laboratory must determine the performance characteristics of the platform, test and informatics pipeline. This report docum...

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Detalles Bibliográficos
Autores principales: Linderman, Michael D, Brandt, Tracy, Edelmann, Lisa, Jabado, Omar, Kasai, Yumi, Kornreich, Ruth, Mahajan, Milind, Shah, Hardik, Kasarskis, Andrew, Schadt, Eric E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022392/
https://www.ncbi.nlm.nih.gov/pubmed/24758382
http://dx.doi.org/10.1186/1755-8794-7-20