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Planning the Human Variome Project: The Spain report†

  1. Jim Kaput1,‡,*,
  2. Richard G.H. Cotton2,3,‡,
  3. Lauren Hardman2,‡,
  4. Michael Watson4,‡,
  5. Aida I. Al Aqeel5,
  6. Jumana Y. Al-Aama6,
  7. Fahd Al-Mulla7,
  8. Santos Alonso8,
  9. Stefan Aretz9,
  10. Arleen D. Auerbach10,
  11. Bharati Bapat11,
  12. Inge T. Bernstein12,
  13. Jong Bhak13,
  14. Stacey L. Bleoo14,
  15. Helmut Blöcker15,
  16. Steven E. Brenner16,
  17. John Burn17,
  18. Mariona Bustamante18,
  19. Rita Calzone19,
  20. Anne Cambon-Thomsen20,
  21. Michele Cargill21,
  22. Paola Carrera22,
  23. Lawrence Cavedon23,
  24. Yoon Shin Cho24,
  25. Yeun-Jun Chung25,
  26. Mireille Claustres26,
  27. Garry Cutting27,
  28. Raymond Dalgleish28,
  29. Johan T. den Dunnen29,
  30. Carlos Díaz30,
  31. Steven Dobrowolski31,
  32. M. Rosário N. dos Santos32,
  33. Rosemary Ekong33,
  34. Simon B. Flanagan34,
  35. Paul Flicek35,
  36. Yoichi Furukawa36,
  37. Maurizio Genuardi37,
  38. Ho Ghang13,
  39. Maria V. Golubenko38,
  40. Marc S. Greenblatt39,
  41. Ada Hamosh40,
  42. John M. Hancock41,
  43. Ross Hardison42,
  44. Terence M. Harrison43,
  45. Robert Hoffmann44,
  46. Rania Horaitis2,
  47. Heather J. Howard2,
  48. Carol Isaacson Barash45,
  49. Neskuts Izagirre46,
  50. Jongsun Jung24,
  51. Toshio Kojima47,
  52. Sandrine Laradi48,
  53. Yeon-Su Lee49,
  54. Jong-Young Lee24,
  55. Vera L. Gil-da-Silva-Lopes50,
  56. Finlay A. Macrae51,
  57. Donna Maglott52,
  58. Makia J. Marafie53,
  59. Steven G.E. Marsh54,
  60. Yoichi Matsubara55,
  61. Ludwine M. Messiaen56,
  62. Gabriela Möslein57,
  63. Mihai G. Netea58,
  64. Melissa L. Norton59,
  65. Peter J. Oefner60,
  66. William S. Oetting61,
  67. James C. O'Leary62,
  68. Ana Maria Oller de Ramirez63,
  69. Mark H. Paalman64,
  70. Jillian Parboosingh65,
  71. George P. Patrinos66,
  72. Giuditta Perozzi67,
  73. Ian R. Phillips68,
  74. Sue Povey34,
  75. Suyash Prasad69,
  76. Ming Qi70,
  77. David J. Quin71,
  78. Rajkumar S. Ramesar72,
  79. C. Sue Richards73,
  80. Judith Savige74,
  81. Dagmar G. Scheible75,
  82. Rodney J. Scott76,
  83. Daniela Seminara77,
  84. Elizabeth A. Shephard78,
  85. Rolf H. Sijmons79,
  86. Timothy D. Smith2,
  87. María-Jesús Sobrido80,
  88. Toshihiro Tanaka81,
  89. Sean V. Tavtigian82,
  90. Graham R. Taylor83,
  91. Jon Teague84,
  92. Thoralf Töpel85,
  93. Mollie Ullman-Cullere86,
  94. Joji Utsunomiya47,
  95. Henk J. van Kranen87,
  96. Mauno Vihinen88,
  97. Elizabeth Webb2,
  98. Thomas K. Weber89,
  99. Meredith Yeager90,
  100. Young I. Yeom91,
  101. Seon-Hee Yim92,
  102. Hyang-Sook Yoo93

Article first published online: 20 JAN 2009

DOI: 10.1002/humu.20972

Issue

Human Mutation

Human Mutation

Volume 30, Issue 4, pages 496–510, April 2009

Additional Information

How to Cite

Kaput, J., Cotton, R. G., Hardman, L., Watson, M., Al Aqeel, A. I., Al-Aama, J. Y., Al-Mulla, F., Alonso, S., Aretz, S., Auerbach, A. D., Bapat, B., Bernstein, I. T., Bhak, J., Bleoo, S. L., Blöcker, H., Brenner, S. E., Burn, J., Bustamante, M., Calzone, R., Cambon-Thomsen, A., Cargill, M., Carrera, P., Cavedon, L., Cho, Y. S., Chung, Y.-J., Claustres, M., Cutting, G., Dalgleish, R., den Dunnen, J. T., Díaz, C., Dobrowolski, S., dos Santos, M. R. N., Ekong, R., Flanagan, S. B., Flicek, P., Furukawa, Y., Genuardi, M., Ghang, H., Golubenko, M. V., Greenblatt, M. S., Hamosh, A., Hancock, J. M., Hardison, R., Harrison, T. M., Hoffmann, R., Horaitis, R., Howard, H. J., Barash, C. I., Izagirre, N., Jung, J., Kojima, T., Laradi, S., Lee, Y.-S., Lee, J.-Y., Gil-da-Silva-Lopes, V. L., Macrae, F. A., Maglott, D., Marafie, M. J., Marsh, S. G., Matsubara, Y., Messiaen, L. M., Möslein, G., Netea, M. G., Norton, M. L., Oefner, P. J., Oetting, W. S., O'Leary, J. C., de Ramirez, A. M. O., Paalman, M. H., Parboosingh, J., Patrinos, G. P., Perozzi, G., Phillips, I. R., Povey, S., Prasad, S., Qi, M., Quin, D. J., Ramesar, R. S., Richards, C. S., Savige, J., Scheible, D. G., Scott, R. J., Seminara, D., Shephard, E. A., Sijmons, R. H., Smith, T. D., Sobrido, M.-J., Tanaka, T., Tavtigian, S. V., Taylor, G. R., Teague, J., Töpel, T., Ullman-Cullere, M., Utsunomiya, J., van Kranen, H. J., Vihinen, M., Webb, E., Weber, T. K., Yeager, M., Yeom, Y. I., Yim, S.-H. and Yoo, H.-S. (2009), Planning the Human Variome Project: The Spain report. Human Mutation, 30: 496–510. doi: 10.1002/humu.20972

Author Information

  1. 1

    Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas

  2. 2

    Genomic Disorders Research Centre, Melbourne, Australia

  3. 3

    Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Australia

  4. 4

    American College of Medical Genetics, Bethesda, Maryland

  5. 5

    Department of Paediatrics, Riyadh Military Hospital, Kingdom of Saudi Arabia

  6. 6

    Princess Al Jawhara Center for Hereditary Disorders, King Abdulaziz University, Saudi Arabia

  7. 7

    Molecular Pathology Unit, Kuwait University, Kuwait

  8. 8

    Department of Genetics, Physical Anthropology and Animal Physiology, University of the Basque Country, Spain

  9. 9

    Institute of Human Genetics, University of Bonn, Germany

  10. 10

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

  11. 11

    Lab Medicine & Pathobiology, Mount Sinai Hospital, University of Toronto, Canada

  12. 12

    Surgical gastroenterology, Hvidovre Hospital, Copenhagen, Denmark

  13. 13

    Korean Bioinformation Center, KRIBB, ChungNam, South Korea

  14. 14

    Medical Genetics, University of Alberta, Edmonton, Canada

  15. 15

    Genome Analysis, HZI—Helmholtz Centre for Infection Research, Braunschweig, Germany

  16. 16

    University of California, Berkeley, California

  17. 17

    Institute of Human Genetics, International Centre for Life, United Kingdom

  18. 18

    Centre for Genomic Regulation and Center for Network Biomedical Research on Epidemiology and Public Health, Barcelona, Spain

  19. 19

    Genetic Service ASL, Napoli, Italy

  20. 20

    Epidemiology and Public Health Analyses, Inserm, Toulouse, France

  21. 21

    Human Genetics, Navigenics, Redwood Shores, California

  22. 22

    Unit of Genomics for Diagnostics of Human Disease and Laboraf, San Raffaele Scientific Institute, Milano, Italy

  23. 23

    Victorian Research Laboratory, NICTA (National ICT Australia), Parkville, Australia

  24. 24

    Division of Structural and Functional Genomics, Korean National Institute of Health, Seoul, South Korea

  25. 25

    Department of Microbiology and Genomics, Catholic University of Korea, Seoul, South Korea

  26. 26

    Université Montpellier 1, Faculté de Médecine and CHU, Laboratoire de Genetique Moleculaire, Montpellier, France

  27. 27

    Johns Hopkins University School of Medicine, Institute of Genetic Medicine, Baltimore, Maryland

  28. 28

    Department of Genetics, University of Leicester, United Kingdom

  29. 29

    Human and Clinical Genetics, Leiden University Medical Center, The Netherlands

  30. 30

    European Projects Management and Coordination Office, Fundació IMIM, Barcelona, Spain

  31. 31

    Research & Development, Idaho Technology, Inc., Salt Lake City, Utah

  32. 32

    Centro de Genética Médica J., Magalhães, INSA, Portugall

  33. 33

    Department of Genetics, Evolution and Environment, University College London, United Kingdom

  34. 34

    Molecular Genetics, Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, Australia

  35. 35

    EMBL—European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom

  36. 36

    Division of Clinical Genome Research, Institute of Medical Science, The University of Tokyo, Japan

  37. 37

    Clinical Pathophysiology, University of Florence, Italy

  38. 38

    Institute of Medical Genetics, Tomsk, Russia

  39. 39

    College of Medicine, University of Vermont, Burlington, Vermont

  40. 40

    OMIM and Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland

  41. 41

    Bioinformatics Group, MRC Harwell, United Kingdom

  42. 42

    The Pennsylvania State University, University Park, Pennsylvania

  43. 43

    Health Sciences Library and The Victorian Mental Health Library, Royal Melbourne Hospital, Parkville, Australia

  44. 44

    Computer Science and Artificial Intelligence Laboratory, MIT, Cambridge, Massachusetts

  45. 45

    Genetics, Ethics & Policy Consulting Inc., Boston, Massachusetts

  46. 46

    University of the Basque Country, Spain

  47. 47

    Advanced Computational Sciences Department, RIKEN, Kanagawa, Japan

  48. 48

    Establissement Francais Du sang, Auvergne-Loire, France

  49. 49

    Functional Genomics Branch, National Cancer Center, Goyang, South Korea

  50. 50

    Department of Medical Genetics, State University of Campinas, Brazil

  51. 51

    Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia

  52. 52

    OMIM, NCBI, Baltimore, Maryland

  53. 53

    Clinical Genetics, Kuwait Medical Genetics Centre, Kuwait

  54. 54

    HLA Informatics Group, Anthony Nolan Research Institute and Department of Haematology, UCL Cancer Institute, London, United Kingdom

  55. 55

    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan

  56. 56

    Department of Genetics, University of Alabama, Birmingham, Alabama

  57. 57

    St. Josefs-Hospital Bochum-Linden, Germany

  58. 58

    Department of Medicine, Radboud University Nijmegen Medical Center, The Netherlands

  59. 59

    Genome Medicine, London, United Kingdom

  60. 60

    Institute of Functional Genomics, University of Regensburg, Germany

  61. 61

    Department of Medicine, Genetics, Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota

  62. 62

    Genetic Alliance, Washington, DC

  63. 63

    Pediatric Clinic Department, School of Medicine, National University of Córdoba, Argentina

  64. 64

    Human Mutation, Hoboken, New Jersey

  65. 65

    Medical Genetics, University of Calgary, Alberta, Canada

  66. 66

    MGC—Department of Cell Biology and Genetics, Faculty of Medicine and Health Sciences, Erasmus University Medical Center, Rotterdam, The Netherlands and University of Patras, Department of Pharmacy, Patras, Greece

  67. 67

    INRAN—National Research Institute on Food & Nutrition, Rome, Italy

  68. 68

    School of Biological and Chemical Sciences, Queen Mary, University of London, United Kingdom

  69. 69

    Genzyme Therapeutics Ltd, Oxford, United Kingdom

  70. 70

    ADINOVO Center for Genetic & Genomic Medicine, The First Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, P.R. China, and University of Rochester Medical Center, New York

  71. 71

    Funding Health Information Policy, Department of Human Services, Melbourne, Australia

  72. 72

    Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, South Africa

  73. 73

    OHSU DNA Diagnostic Lab, Oregon Health & Science University, Portland, Oregon

  74. 74

    Department of Medicine, The University of Melbourne, Epping, Australia

  75. 75

    Metabolic Department, Klinik fuer Kinder-und Jugendmedizin, Reutlingen, Germany

  76. 76

    Discipline of Medical Genetics, Faculty of Health, University of Newcastle, Australia

  77. 77

    Division of Cancer Control and Population Sciences, National Cancer Institute, NIH, Bethesda, Maryland

  78. 78

    Department of Structural and Molecular Biology, University College London, United Kingdom

  79. 79

    Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands

  80. 80

    Fundacion Publica Galega de Medicina Xenomica, Santiago de Compostela, Spain, and Center for Network Biomedical Research on Rare Diseases, Institute of Health Carlos III, Madrid, Spain

  81. 81

    Centre for Genome Medicine, RIKEN, Tokyo, Japan

  82. 82

    International Agency for Research on Cancer (IARC), Lyon, France

  83. 83

    Regional DNA Laboratory, Cancer Research, UK Mutation Detection Facility, Leeds, United Kingdom

  84. 84

    Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, United Kingdom

  85. 85

    Technical facility, Bioinformatics Department, Bielefeld University, Germany

  86. 86

    Harvard Medical School, Partners HealthCare Center for Genetics and Genomics, Cambridge, Massachusetts

  87. 87

    Nutrition & Health, National Inst. Public Health & Environment, Utrecht, The Netherlands

  88. 88

    Institute of Medical Technology, Bioinformatics Group, University of Tampere and Tampere University Hospital, Finland

  89. 89

    Departments of Surgery and Molecular Genetics, Albert Einstein College of Medicine, New York, New York

  90. 90

    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, Maryland

  91. 91

    Medical Genomics Research Center, Korea Research Institute of Bioscience & Biotechnology, Daejeon, South Korea

  92. 92

    Catholic University of Korea, Seoul, South Korea

  93. 93

    Fred Hutchinson Cancer Research Center—KRIBB, collaboration center at KRIBB, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon, South Korea

  1. ‡

    The first four authors contributed equally to the preparation of this manuscript.

*Division of Personalized Nutrition and Medicine, FDA/National Center for Toxicological Research, 3900 NCTR Road, Jefferson, AR 72079

  1. †

    Affiliations for all authors are listed in the Appendix. Members of working groups, their affiliations, institutions, and email addresses can be found at http://www.humanvariomeproject.org.

Publication History

  1. Issue published online: 20 MAR 2009
  2. Article first published online: 20 JAN 2009
  3. Accepted manuscript online: 20 JAN 2009 12:00AM EST
  4. Manuscript Accepted: 22 DEC 2008
  5. Manuscript Received: 2 DEC 2008

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Keywords:

  • variome;
  • genome;
  • mutation;
  • database;
  • genetic disease

Abstract

The remarkable progress in characterizing the human genome sequence, exemplified by the Human Genome Project and the HapMap Consortium, has led to the perception that knowledge and the tools (e.g., microarrays) are sufficient for many if not most biomedical research efforts. A large amount of data from diverse studies proves this perception inaccurate at best, and at worst, an impediment for further efforts to characterize the variation in the human genome. Because variation in genotype and environment are the fundamental basis to understand phenotypic variability and heritability at the population level, identifying the range of human genetic variation is crucial to the development of personalized nutrition and medicine. The Human Variome Project (HVP; http://www.humanvariomeproject.org/) was proposed initially to systematically collect mutations that cause human disease and create a cyber infrastructure to link locus specific databases (LSDB). We report here the discussions and recommendations from the 2008 HVP planning meeting held in San Feliu de Guixols, Spain, in May 2008. Hum Mutat 30, 496–510, 2009. © 2009 Wiley-Liss, Inc.

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