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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Detalhes bibliográficos
Publicado no: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 em: BioMed Central 2016
Assuntos:
Research
Acesso em linha: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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