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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.

Author information

Author notes

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

    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.).


  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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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.

Corresponding author

Correspondence to Ira M Lubin.

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