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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Detalles Bibliográficos
Autores principales: Goldfeder, Rachel L., Priest, James R., Zook, Justin M., Grove, Megan E., Waggott, Daryl, Wheeler, Matthew T., Salit, Marc, Ashley, Euan A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774017/
https://www.ncbi.nlm.nih.gov/pubmed/26932475
http://dx.doi.org/10.1186/s13073-016-0269-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774017/
https://www.ncbi.nlm.nih.gov/pubmed/26932475
http://dx.doi.org/10.1186/s13073-016-0269-0

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