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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Veröffentlicht in:Genome Med
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2015
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4588251/
https://ncbi.nlm.nih.gov/pubmed/26419432
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-015-0221-8
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