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

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  • Additional Information
    • Abstract:
      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. [ABSTRACT FROM AUTHOR]
    • Abstract:
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    • Author Affiliations:
      1Center for Pediatric Genomic Medicine, Children's Mercy, 2401 Gilham Road, Kansas City, MO 64108, USA
      2Department of Pediatrics, Children's Mercy, Kansas City, MO 64108, USA
      3Department of Pathology, Children's Mercy, Kansas City, MO 64108, USA
      4School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA
      5Deparment of Pediatrics, and Clinical Translational Science Center, University of New Mexico Health Science Center, Albuquerque, NM 87131, USA
      6Edico Genome, Inc., 3344 North Torrey Pines Court, Plaza Level, La Jolla, CA 92037, USA
    • ISSN:
      1756-994X
    • Accession Number:
      10.1186/s13073-015-0221-8
    • Accession Number:
      110082954
  • Citations
    • ABNT:
      MILLER, N. A. et al. A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases. Genome Medicine, [s. l.], v. 7, n. 1, p. 1–16, 2015. Disponível em: . Acesso em: 22 out. 2019.
    • AMA:
      Miller NA, Farrow EG, Gibson M, et al. A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases. Genome Medicine. 2015;7(1):1-16. doi:10.1186/s13073-015-0221-8.
    • APA:
      Miller, N. A., Farrow, E. G., Gibson, M., Willig, L. K., Twist, G., Yoo, B., … Ruehle, M. (2015). A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases. Genome Medicine, 7(1), 1–16. https://doi.org/10.1186/s13073-015-0221-8
    • Chicago/Turabian: Author-Date:
      Miller, Neil A., Emily G. Farrow, Margaret Gibson, Laurel K. Willig, Greyson Twist, Byunggil Yoo, Tyler Marrs, et al. 2015. “A 26-Hour System of Highly Sensitive Whole Genome Sequencing for Emergency Management of Genetic Diseases.” Genome Medicine 7 (1): 1–16. doi:10.1186/s13073-015-0221-8.
    • Harvard:
      Miller, N. A. et al. (2015) ‘A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases’, Genome Medicine, 7(1), pp. 1–16. doi: 10.1186/s13073-015-0221-8.
    • Harvard: Australian:
      Miller, NA, Farrow, EG, Gibson, M, Willig, LK, Twist, G, Yoo, B, Marrs, T, Corder, S, Krivohlavek, L, Walter, A, Petrikin, JE, Saunders, CJ, Thiffault, I, Soden, SE, Smith, LD, Dinwiddie, DL, Herd, S, Cakici, JA, Catreux, S & Ruehle, M 2015, ‘A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases’, Genome Medicine, vol. 7, no. 1, pp. 1–16, viewed 22 October 2019, .
    • MLA:
      Miller, Neil A., et al. “A 26-Hour System of Highly Sensitive Whole Genome Sequencing for Emergency Management of Genetic Diseases.” Genome Medicine, vol. 7, no. 1, Sept. 2015, pp. 1–16. EBSCOhost, doi:10.1186/s13073-015-0221-8.
    • Chicago/Turabian: Humanities:
      Miller, Neil A., Emily G. Farrow, Margaret Gibson, Laurel K. Willig, Greyson Twist, Byunggil Yoo, Tyler Marrs, et al. “A 26-Hour System of Highly Sensitive Whole Genome Sequencing for Emergency Management of Genetic Diseases.” Genome Medicine 7, no. 1 (September 30, 2015): 1–16. doi:10.1186/s13073-015-0221-8.
    • Vancouver/ICMJE:
      Miller NA, Farrow EG, Gibson M, Willig LK, Twist G, Yoo B, et al. A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases. Genome Medicine [Internet]. 2015 Sep 30 [cited 2019 Oct 22];7(1):1–16. Available from: http://widgets.ebscohost.com/prod/customlink/proxify/proxify.php?count=1&encode=0&proxy=&find_1=&replace_1=&target=http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=a9h&AN=110082954&authtype=sso&custid=s5834912