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A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases†

  1. R.G.H. Cotton1,*,
  2. A.D. Auerbach2,
  3. A.F. Brown3,
  4. P. Carrera4,
  5. J. Christodoulou5,
  6. M. Claustres6,
  7. J. Compton7,
  8. D.W. Cox8,
  9. E. De Baere9,
  10. J.T. den Dunnen10,
  11. M. Greenblatt11,
  12. M. Fujiwara12,
  13. P. Hilbert13,
  14. A. Jani14,
  15. H. Lehvaslaiho15,
  16. D.W. Nebert16,
  17. I. Verma17,
  18. M. Vihinen18,19

Article first published online: 28 AUG 2007

DOI: 10.1002/humu.20631

Issue

Human Mutation

Human Mutation

Volume 28, Issue 10, pages 931–932, October 2007

Additional Information

How to Cite

Cotton, R.G.H., Auerbach, A.D., Brown, A.F., Carrera, P., Christodoulou, J., Claustres, M., Compton, J., Cox, D.W., De Baere, E., den Dunnen, J.T., Greenblatt, M., Fujiwara, M., Hilbert, P., Jani, A., Lehvaslaiho, H., Nebert, D.W., Verma, I. and Vihinen, M. (2007), A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases. Hum. Mutat., 28: 931–932. doi: 10.1002/humu.20631

Author Information

  1. 1

    Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne, Fitzroy, Victoria, Australia

  2. 2

    Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, New York

  3. 3

    Medical Research Council (MRC), MRC Human Genetics Unit, Edinburgh, UK

  4. 4

    San Raffaele Scientific Institute and Laboraf, Molecular Biology, Milano, Italy

  5. 5

    Western Sydney Genetics Program, Children's Hospital at Westmead, Westmead, New South Wales, Australia

  6. 6

    Molecular Genetics Laboratory, Centre Hospitalier Universitaire (CHU) de Montpellier, IURC, Montpellier, France

  7. 7

    GeneDx, Inc., Gaithersburg, Maryland

  8. 8

    Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada

  9. 9

    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

  10. 10

    Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, Nederland

  11. 11

    College of Medicine, University of Vermont, Burlington, Vermont

  12. 12

    Department of Medical Genetics, Montreal General Hospital, Montreal, Quebec, Canada

  13. 13

    Institut de Pathologie et de Génétique (IPG)-Molecular Biology, Gosselies, Belgium

  14. 14

    DNA Lab, Oxford Medical Genetics Labs, The Churchill Hospital, Oxford, UK

  15. 15

    South African National Bioinformatics Institute (SANBI), University of the Western Cape, Bellville, South Africa

  16. 16

    Department of Environmental Health, University of Cincinnati Medical Center, Cincinnati, Ohio

  17. 17

    Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India

  18. 18

    Research Unit, Tampere University Hospital, Tampere, Finland

  19. 19

    Institute of Medical Technology, University of Tampere, Finland

*Genomic Disorders Research Centre, 7th Floor Daly Wing, St. Vincent's Hospital Melbourne, 35 Victoria Parade, Fitzroy VIC 3065, Australia

  1. †

    Communicated by Garry R. Cutting

Publication History

  1. Issue published online: 6 SEP 2007
  2. Article first published online: 28 AUG 2007
  3. Manuscript Accepted: 30 JUL 2007
  4. Manuscript Received: 9 JUL 2007

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REFERENCES

  • Cotton RG, 2006 Human Variome Project: Appelbe W, Auerbach AD, Becker K, Bodmer W, Boone DJ, Boulyjenkov V, Brahmachari S, Brody L, Brookes A, Brown AF, Byers P, Cantu JM, Cassiman JJ, Claustres M, Concannon P, Cotton RG, den Dunnen JT, Flicek P, Gibbs R, Hall J, Hasler J, Katz M, Kwok PY, Laradi S, Lindblom A, Maglott D, Marsh S, Masimirembwa CM, Minoshima S, de Ramirez AM, Pagon R, Ramesar R, Ravine D, Richards S, Rimoin D, Ring HZ, Scriver CR, Sherry S, Shimizu N, Stein L, Tadmouri GO, Taylor G, Watson M. 2007. Recommendations of the 2006 Human Variome Project meeting. Nat Genet 39:433–436.
  • Strom C. 2005. In defence of commercial laboratories. Genet Med 7:590.
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