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

24 Sept 2015

Abstract excerpt

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 diseases in very ill infants, and genotype-guided choice of chemotherapy at cancer relapse. In such situations,...

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PMID: 26419432
DOI: 10.1186/s13073-015-0221-8

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