The DOI matches its Crossref record; 36 of the 36 references it cites were found in a registry or an index.
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
Open accessAbstract
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, delayed, empiric, or phenotype-based clinical decisions may meet with substantial morbidity or mortality. We previously described a rapid WGS method, STATseq, with a sensitivity of >96 % for nucleotide variants that allowed a provisional diagnosis of a genetic disease in 50 h. Here improvements in sequencing run time, read alignment, and variant calling are described that enable 26-h time to provisional molecular diagnosis with >99.5 % sensitivity and specificity of genotypes. STATseq appears to be an appropriate strategy for acutely ill patients with potentially actionable genetic diseases.
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Cited by
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“, 2018) and the Dragen variant caller (Miller et al., 2015) (Methods).”
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Self-citationWhole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study
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Clinical sequencing: is WGS the better WES?
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Metadata
- Authors
- Miller, N. A., Farrow, E. G., Gibson, M., Willig, L. K., Twist, G., Yoo, B., Marrs, T., Corder, S., Krivohlavek, L., Walter, A., Petrikin, J. E., Saunders, C. J., Thiffault, I., Soden, S. E., Smith, L. D., Dinwiddie, D. L., Herd, S., Cakici, J. A., Catreux, S., Ruehle, M., & Kingsmore, S. F.
- Venue
- Genome Medicine
- Published
- 2015-09-30
- Volume
- 7
- Issue
- 1
- Pages
- 100-100
- ISSN
- 1756-994X (ISSN-L)
- OpenAlex
- W2101305463
- Cited by
- 300
- References
- 36
- FWCI
- 17.89
- Type
- journal article
- Language
- en
- Open access
- gold
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- Miller, N. A., Farrow, E. G., Gibson, M., Willig, L. K., Twist, G., Yoo, B., Marrs, T., Corder, S., Krivohlavek, L., Walter, A., Petrikin, J. E., Saunders, C. J., Thiffault, I., Soden, S. E., Smith, L. D., Dinwiddie, D. L., Herd, S., Cakici, J. A., Catreux, S., . . . Kingsmore, S. F. (2015). A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases. Genome Medicine. https://doi.org/10.1186/s13073-015-0221-8
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