Medical implications of technical accuracy in genome sequencing

BACKGROUND: As whole exome sequencing (WES) and whole genome sequencing (WGS) transition from research tools to clinical diagnostic tests, it is increasingly critical for sequencing methods and analysis pipelines to be technically accurate. The Genome in a Bottle Consortium has recently published a...

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Publicado en:Genome Med
Main Authors: Goldfeder, Rachel L., Priest, James R., Zook, Justin M., Grove, Megan E., Waggott, Daryl, Wheeler, Matthew T., Salit, Marc, Ashley, Euan A.
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2016
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Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4774017/
https://ncbi.nlm.nih.gov/pubmed/26932475
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-016-0269-0
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