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Assuring the quality of next-generation sequencing in clinical laboratory practice

Nature Biotechnology volume 30, pages 1033–1036 (2012)Cite this article

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References

  1. Clinical and Laboratory Standards Institute (CLSI). Quality management system: a model for laboratory services; approved guideline 4th edn. (Document no. GP26–A4, Vol. 31, No. 15) (Clinical and Laboratory Standards Institute, 2011).

  2. Centers for Medicare and Medicaid Services. Clinical laboratory improvement amendments of 1988 (Part 493) 1443–1495 (US Department of Health and Human Services, 1988).

  3. International Organization for Standardization. ISO 15189 Medical laboratories—Particular requirements for quality and competence (International Organization for Standardization, 2007).

  4. Clinical and Laboratory Standards Institute (CLSI). Molecular Methods for Clinical Genetics and Oncology Testing; Approved Guideline-Third Edition CLSI (Document MM01-A3, Vol 32, No. 7) (Clinical and Laboratory Standards Institute, 2012).

  5. Durbin, R.M. et al. Nature 467, 1061–1073 (2010).

    Article  CAS  Google Scholar 

Download references

Acknowledgements

The authors thank E. Mansfield, N. Aziz, P. Keller, J. Kaufman, S. Ghosh, R. Leach, J. Robinson, A. Felsenfeld, M. Salit and E. Highsmith for their help and support. The findings and conclusions in this report are those of the authors and do not necessarily represent the views of the CDC or the US Agency for Toxic Substances and Disease Registry. The identification of certain commercial equipment, instruments or materials in this document does not imply recommendation or endorsement by the US National Institute of Standards and Technology, nor does it imply that the products identified are necessarily the best available for the purpose. The research was supported in part by an appointment to A.S.G. to the Research Participation Program at the CDC administered by the Oak Ridge Institute for Science and Education through an interagency agreement between the US Department of Energy and the CDC.

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Author notes

  1. Ephrem L H Chin, Ute Geigenmüller, Sandra J Gunselman, Andrew Kasarskis & Joanne M Yeakley

    Present address: Present addresses: Mitochondrial Diagnostic Laboratory, Baylor College of Medicine, Houston, Texas, USA (E.L.H.C.), Department of Medicine, Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA (U.G.), Transgenomic, Inc., New Haven, Connecticut, USA (S.J.G.), Department of Genetics and Genomic Sciences, Institute for Genomics and Multiscale Biology, Mount Sinai School of Medicine, New York, New York, USA (A.K.) and 255Xpress, Inc., La Jolla, California, USA (J.M.Y.).,

Authors and Affiliations

  1. Division of Laboratory Science and Standards, Centers for Disease Control and Prevention, Atlanta, Georgia, USA

    Amy S Gargis, Lisa Kalman, Barbara A Zehnbauer, Bin Chen & Ira M Lubin

  2. SeqWright, Inc., Houston, Texas, USA

    Meredith W Berry & Fei Lu

  3. Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA

    David P Bick & David P Dimmock

  4. Illumina Clinical Services, San Diego, California, USA

    Tina Hambuch

  5. Department of Pathology, University of Utah, Salt Lake City, Utah, USA

    Elaine Lyon & Karl V Voelkerding

  6. Institute for Clinical and Experimental Pathology, Associated Regional and University Pathologists (ARUP) Laboratories, Salt Lake City, Utah, USA

    Elaine Lyon & Karl V Voelkerding

  7. National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, Maryland, USA

    Richa Agarwala

  8. Division of Laboratory Services, Centers for Medicare and Medicaid Services, Baltimore, Maryland, USA

    Sarah F Bennett

  9. Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA

    Ephrem L H Chin & Madhuri R Hegde

  10. GeneDx Inc., Gaithersburg, Maryland, USA

    John G Compton

  11. Department of Human Genetics, University of Chicago, Chicago, Illinois, USA

    Soma Das

  12. Sequenom Center for Molecular Medicine, Inc., Grand Rapids, Michigan, USA

    Daniel H Farkas

  13. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA

    Matthew J Ferber

  14. Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Cambridge, Massachusetts, USA

    Birgit H Funke & Heidi L Rehm

  15. Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA

    Birgit H Funke & Heidi L Rehm

  16. Life Technologies, Foster City, California, USA

    Manohar R Furtado

  17. National Center for HIV, Viral Hepatitis, STD, and TB Prevention, Centers for Disease Control and Prevention, Atlanta, Georgia, USA

    Lilia M Ganova-Raeva

  18. Correlagen Diagnostics Inc., Waltham, Massachusetts, USA

    Ute Geigenmüller

  19. Kailos Genetics, Inc., Huntsville, Alabama, USA

    Sandra J Gunselman

  20. Department of Biology, Emory University, Atlanta, GA, USA

    Philip L F Johnson

  21. Pacific Biosciences, Menlo Park, California, USA

    Andrew Kasarskis

  22. Departments of Genetics, Pediatrics, Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA

    Shashikant Kulkarni

  23. Celera Corporation, Alameda, California, USA

    Thomas Lenk

  24. Softgenetics LLC, State College, Pennsylvania, USA

    C S Jonathan Liu & Megan Manion

  25. National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA

    Teri A Manolio

  26. The Genome Center at Washington University and Department of Genetics and Molecular Microbiology, Washington University in Saint Louis, St. Louis, Missouri, USA

    Elaine R Mardis

  27. Department of Pathology, Stanford University, Stanford, California, USA

    Jason D Merker

  28. National Center for Emerging and Zoonotic Infectious Diseases, Centers for Disease Control and Prevention, Atlanta, Georgia, USA

    Mangalathu S Rajeevan

  29. Omica Inc., Emeryville, California, USA

    Martin G Reese

  30. 454 Life Sciences, A Roche Company, Branford, Connecticut, USA

    Birgitte B Simen

  31. Illumina Inc., San Diego, California, USA

    Joanne M Yeakley

  32. National Institute of Standards and Technology, Gaithersburg, Maryland, USA

    Justin M Zook

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  1. Amy S Gargis
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  2. Lisa Kalman
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  3. Meredith W Berry
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  7. Fei Lu
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  8. Elaine Lyon
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  14. Ephrem L H Chin
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  34. Mangalathu S Rajeevan
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  35. Martin G Reese
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  37. Birgitte B Simen
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  38. Joanne M Yeakley
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  39. Justin M Zook
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  40. Ira M Lubin
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Corresponding author

Correspondence to Ira M Lubin.

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Competing interests

D.P.D. works at the Medical College of Wisconsin; T.H. works at Illumina; E.L. works at University of Utah/ARUP Laboratories, has research grants from NIH/NICHD and NHGRI and receives consulting fees from Novartis and Complete Genomics; E.L.H.C. worked at Emory University School of Medicine and now works at Baylor College of Medicine; J.G.C. works at GeneDX; D.H.F. works at Sequenom; M.R.F. works at and owns stock in Life Technologies; C.J.L. works at Softgenetics; M.G.R. works at and owns stock options/bonds and has ownership in Omicia; B.B.S. works at Life Sciences (Roche); J.M.Y. works at and owns stock in Illumina.

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Supplementary Guidelines, Supplementary Figure 1 and Supplementary Tables 1–4 (PDF 490 kb)

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Gargis, A., Kalman, L., Berry, M. et al. Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol 30, 1033–1036 (2012). https://doi.org/10.1038/nbt.2403

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