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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...
Autores principales: | Goldfeder, Rachel L., Priest, James R., Zook, Justin M., Grove, Megan E., Waggott, Daryl, Wheeler, Matthew T., Salit, Marc, Ashley, Euan A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
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 |
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