A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

While the cost of whole genome sequencing (WGS) is approaching the realm of routine medical tests, it remains too tardy to help guide the management of many acute medical conditions. Rapid WGS is imperative in light of growing evidence of its utility in acute care, such as in diagnosis of genetic di...

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Detalles Bibliográficos
Autores principales: Miller, Neil A., Farrow, Emily G., Gibson, Margaret, Willig, Laurel K., Twist, Greyson, Yoo, Byunggil, Marrs, Tyler, Corder, Shane, Krivohlavek, Lisa, Walter, Adam, Petrikin, Josh E., Saunders, Carol J., Thiffault, Isabelle, Soden, Sarah E., Smith, Laurie D., Dinwiddie, Darrell L., Herd, Suzanne, Cakici, Julie A., Catreux, Severine, Ruehle, Mike, Kingsmore, Stephen F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588251/
https://www.ncbi.nlm.nih.gov/pubmed/26419432
http://dx.doi.org/10.1186/s13073-015-0221-8

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