Planning the Human Variome Project: The Spain report†
Corresponding Author
Jim Kaput
Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas
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 72079Search for more papers by this authorRichard G.H. Cotton
Genomic Disorders Research Centre, Melbourne, Australia
Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Australia
The first four authors contributed equally to the preparation of this manuscript.
Search for more papers by this authorLauren Hardman
Genomic Disorders Research Centre, Melbourne, Australia
The first four authors contributed equally to the preparation of this manuscript.
Search for more papers by this authorMichael Watson
American College of Medical Genetics, Bethesda, Maryland
The first four authors contributed equally to the preparation of this manuscript.
Search for more papers by this authorAida I. Al Aqeel
Department of Paediatrics, Riyadh Military Hospital, Kingdom of Saudi Arabia
Search for more papers by this authorJumana Y. Al-Aama
Princess Al Jawhara Center for Hereditary Disorders, King Abdulaziz University, Saudi Arabia
Search for more papers by this authorFahd Al-Mulla
Molecular Pathology Unit, Kuwait University, Kuwait
Search for more papers by this authorSantos Alonso
Department of Genetics, Physical Anthropology and Animal Physiology, University of the Basque Country, Spain
Search for more papers by this authorStefan Aretz
Institute of Human Genetics, University of Bonn, Germany
Search for more papers by this authorArleen D. Auerbach
Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, New York
Search for more papers by this authorBharati Bapat
Lab Medicine & Pathobiology, Mount Sinai Hospital, University of Toronto, Canada
Search for more papers by this authorInge T. Bernstein
Surgical gastroenterology, Hvidovre Hospital, Copenhagen, Denmark
Search for more papers by this authorJong Bhak
Korean Bioinformation Center, KRIBB, ChungNam, South Korea
Search for more papers by this authorStacey L. Bleoo
Medical Genetics, University of Alberta, Edmonton, Canada
Search for more papers by this authorHelmut Blöcker
Genome Analysis, HZI—Helmholtz Centre for Infection Research, Braunschweig, Germany
Search for more papers by this authorSteven E. Brenner
University of California, Berkeley, California
Search for more papers by this authorJohn Burn
Institute of Human Genetics, International Centre for Life, United Kingdom
Search for more papers by this authorMariona Bustamante
Centre for Genomic Regulation and Center for Network Biomedical Research on Epidemiology and Public Health, Barcelona, Spain
Search for more papers by this authorAnne Cambon-Thomsen
Epidemiology and Public Health Analyses, Inserm, Toulouse, France
Search for more papers by this authorMichele Cargill
Human Genetics, Navigenics, Redwood Shores, California
Search for more papers by this authorPaola Carrera
Unit of Genomics for Diagnostics of Human Disease and Laboraf, San Raffaele Scientific Institute, Milano, Italy
Search for more papers by this authorLawrence Cavedon
Victorian Research Laboratory, NICTA (National ICT Australia), Parkville, Australia
Search for more papers by this authorYoon Shin Cho
Division of Structural and Functional Genomics, Korean National Institute of Health, Seoul, South Korea
Search for more papers by this authorYeun-Jun Chung
Department of Microbiology and Genomics, Catholic University of Korea, Seoul, South Korea
Search for more papers by this authorMireille Claustres
Université Montpellier 1, Faculté de Médecine and CHU, Laboratoire de Genetique Moleculaire, Montpellier, France
Search for more papers by this authorGarry Cutting
Johns Hopkins University School of Medicine, Institute of Genetic Medicine, Baltimore, Maryland
Search for more papers by this authorRaymond Dalgleish
Department of Genetics, University of Leicester, United Kingdom
Search for more papers by this authorJohan T. den Dunnen
Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
Search for more papers by this authorCarlos Díaz
European Projects Management and Coordination Office, Fundació IMIM, Barcelona, Spain
Search for more papers by this authorSteven Dobrowolski
Research & Development, Idaho Technology, Inc., Salt Lake City, Utah
Search for more papers by this authorM. Rosário N. dos Santos
Centro de Genética Médica J., Magalhães, INSA, Portugall
Search for more papers by this authorRosemary Ekong
Department of Genetics, Evolution and Environment, University College London, United Kingdom
Search for more papers by this authorSimon B. Flanagan
Molecular Genetics, Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, Australia
Search for more papers by this authorPaul Flicek
EMBL—European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom
Search for more papers by this authorYoichi Furukawa
Division of Clinical Genome Research, Institute of Medical Science, The University of Tokyo, Japan
Search for more papers by this authorMaurizio Genuardi
Clinical Pathophysiology, University of Florence, Italy
Search for more papers by this authorHo Ghang
Korean Bioinformation Center, KRIBB, ChungNam, South Korea
Search for more papers by this authorMaria V. Golubenko
Institute of Medical Genetics, Tomsk, Russia
Search for more papers by this authorMarc S. Greenblatt
College of Medicine, University of Vermont, Burlington, Vermont
Search for more papers by this authorAda Hamosh
OMIM and Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland
Search for more papers by this authorJohn M. Hancock
Bioinformatics Group, MRC Harwell, United Kingdom
Search for more papers by this authorRoss Hardison
The Pennsylvania State University, University Park, Pennsylvania
Search for more papers by this authorTerence M. Harrison
Health Sciences Library and The Victorian Mental Health Library, Royal Melbourne Hospital, Parkville, Australia
Search for more papers by this authorRobert Hoffmann
Computer Science and Artificial Intelligence Laboratory, MIT, Cambridge, Massachusetts
Search for more papers by this authorRania Horaitis
Genomic Disorders Research Centre, Melbourne, Australia
Search for more papers by this authorHeather J. Howard
Genomic Disorders Research Centre, Melbourne, Australia
Search for more papers by this authorCarol Isaacson Barash
Genetics, Ethics & Policy Consulting Inc., Boston, Massachusetts
Search for more papers by this authorJongsun Jung
Division of Structural and Functional Genomics, Korean National Institute of Health, Seoul, South Korea
Search for more papers by this authorToshio Kojima
Advanced Computational Sciences Department, RIKEN, Kanagawa, Japan
Search for more papers by this authorSandrine Laradi
Establissement Francais Du sang, Auvergne-Loire, France
Search for more papers by this authorYeon-Su Lee
Functional Genomics Branch, National Cancer Center, Goyang, South Korea
Search for more papers by this authorJong-Young Lee
Division of Structural and Functional Genomics, Korean National Institute of Health, Seoul, South Korea
Search for more papers by this authorVera L. Gil-da-Silva-Lopes
Department of Medical Genetics, State University of Campinas, Brazil
Search for more papers by this authorFinlay A. Macrae
Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia
Search for more papers by this authorMakia J. Marafie
Clinical Genetics, Kuwait Medical Genetics Centre, Kuwait
Search for more papers by this authorSteven G.E. Marsh
HLA Informatics Group, Anthony Nolan Research Institute and Department of Haematology, UCL Cancer Institute, London, United Kingdom
Search for more papers by this authorYoichi Matsubara
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Search for more papers by this authorLudwine M. Messiaen
Department of Genetics, University of Alabama, Birmingham, Alabama
Search for more papers by this authorMihai G. Netea
Department of Medicine, Radboud University Nijmegen Medical Center, The Netherlands
Search for more papers by this authorPeter J. Oefner
Institute of Functional Genomics, University of Regensburg, Germany
Search for more papers by this authorWilliam S. Oetting
Department of Medicine, Genetics, Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota
Search for more papers by this authorAna Maria Oller de Ramirez
Pediatric Clinic Department, School of Medicine, National University of Córdoba, Argentina
Search for more papers by this authorJillian Parboosingh
Medical Genetics, University of Calgary, Alberta, Canada
Search for more papers by this authorGeorge P. Patrinos
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
Search for more papers by this authorGiuditta Perozzi
INRAN—National Research Institute on Food & Nutrition, Rome, Italy
Search for more papers by this authorIan R. Phillips
School of Biological and Chemical Sciences, Queen Mary, University of London, United Kingdom
Search for more papers by this authorSue Povey
Molecular Genetics, Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, Australia
Search for more papers by this authorMing Qi
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
Search for more papers by this authorDavid J. Quin
Funding Health Information Policy, Department of Human Services, Melbourne, Australia
Search for more papers by this authorRajkumar S. Ramesar
Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, South Africa
Search for more papers by this authorC. Sue Richards
OHSU DNA Diagnostic Lab, Oregon Health & Science University, Portland, Oregon
Search for more papers by this authorJudith Savige
Department of Medicine, The University of Melbourne, Epping, Australia
Search for more papers by this authorDagmar G. Scheible
Metabolic Department, Klinik fuer Kinder-und Jugendmedizin, Reutlingen, Germany
Search for more papers by this authorRodney J. Scott
Discipline of Medical Genetics, Faculty of Health, University of Newcastle, Australia
Search for more papers by this authorDaniela Seminara
Division of Cancer Control and Population Sciences, National Cancer Institute, NIH, Bethesda, Maryland
Search for more papers by this authorElizabeth A. Shephard
Department of Structural and Molecular Biology, University College London, United Kingdom
Search for more papers by this authorRolf H. Sijmons
Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands
Search for more papers by this authorTimothy D. Smith
Genomic Disorders Research Centre, Melbourne, Australia
Search for more papers by this authorMaría-Jesús Sobrido
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
Search for more papers by this authorToshihiro Tanaka
Centre for Genome Medicine, RIKEN, Tokyo, Japan
Search for more papers by this authorSean V. Tavtigian
International Agency for Research on Cancer (IARC), Lyon, France
Search for more papers by this authorGraham R. Taylor
Regional DNA Laboratory, Cancer Research, UK Mutation Detection Facility, Leeds, United Kingdom
Search for more papers by this authorJon Teague
Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, United Kingdom
Search for more papers by this authorThoralf Töpel
Technical facility, Bioinformatics Department, Bielefeld University, Germany
Search for more papers by this authorMollie Ullman-Cullere
Harvard Medical School, Partners HealthCare Center for Genetics and Genomics, Cambridge, Massachusetts
Search for more papers by this authorJoji Utsunomiya
Advanced Computational Sciences Department, RIKEN, Kanagawa, Japan
Search for more papers by this authorHenk J. van Kranen
Nutrition & Health, National Inst. Public Health & Environment, Utrecht, The Netherlands
Search for more papers by this authorMauno Vihinen
Institute of Medical Technology, Bioinformatics Group, University of Tampere and Tampere University Hospital, Finland
Search for more papers by this authorElizabeth Webb
Genomic Disorders Research Centre, Melbourne, Australia
Search for more papers by this authorThomas K. Weber
Departments of Surgery and Molecular Genetics, Albert Einstein College of Medicine, New York, New York
Search for more papers by this authorMeredith Yeager
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, Maryland
Search for more papers by this authorYoung I. Yeom
Medical Genomics Research Center, Korea Research Institute of Bioscience & Biotechnology, Daejeon, South Korea
Search for more papers by this authorHyang-Sook Yoo
Fred Hutchinson Cancer Research Center—KRIBB, collaboration center at KRIBB, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon, South Korea
Search for more papers by this authoron behalf of contributors to the Human Variome Project Planning Meeting
Search for more papers by this authorCorresponding Author
Jim Kaput
Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas
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 72079Search for more papers by this authorRichard G.H. Cotton
Genomic Disorders Research Centre, Melbourne, Australia
Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Australia
The first four authors contributed equally to the preparation of this manuscript.
Search for more papers by this authorLauren Hardman
Genomic Disorders Research Centre, Melbourne, Australia
The first four authors contributed equally to the preparation of this manuscript.
Search for more papers by this authorMichael Watson
American College of Medical Genetics, Bethesda, Maryland
The first four authors contributed equally to the preparation of this manuscript.
Search for more papers by this authorAida I. Al Aqeel
Department of Paediatrics, Riyadh Military Hospital, Kingdom of Saudi Arabia
Search for more papers by this authorJumana Y. Al-Aama
Princess Al Jawhara Center for Hereditary Disorders, King Abdulaziz University, Saudi Arabia
Search for more papers by this authorFahd Al-Mulla
Molecular Pathology Unit, Kuwait University, Kuwait
Search for more papers by this authorSantos Alonso
Department of Genetics, Physical Anthropology and Animal Physiology, University of the Basque Country, Spain
Search for more papers by this authorStefan Aretz
Institute of Human Genetics, University of Bonn, Germany
Search for more papers by this authorArleen D. Auerbach
Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, New York
Search for more papers by this authorBharati Bapat
Lab Medicine & Pathobiology, Mount Sinai Hospital, University of Toronto, Canada
Search for more papers by this authorInge T. Bernstein
Surgical gastroenterology, Hvidovre Hospital, Copenhagen, Denmark
Search for more papers by this authorJong Bhak
Korean Bioinformation Center, KRIBB, ChungNam, South Korea
Search for more papers by this authorStacey L. Bleoo
Medical Genetics, University of Alberta, Edmonton, Canada
Search for more papers by this authorHelmut Blöcker
Genome Analysis, HZI—Helmholtz Centre for Infection Research, Braunschweig, Germany
Search for more papers by this authorSteven E. Brenner
University of California, Berkeley, California
Search for more papers by this authorJohn Burn
Institute of Human Genetics, International Centre for Life, United Kingdom
Search for more papers by this authorMariona Bustamante
Centre for Genomic Regulation and Center for Network Biomedical Research on Epidemiology and Public Health, Barcelona, Spain
Search for more papers by this authorAnne Cambon-Thomsen
Epidemiology and Public Health Analyses, Inserm, Toulouse, France
Search for more papers by this authorMichele Cargill
Human Genetics, Navigenics, Redwood Shores, California
Search for more papers by this authorPaola Carrera
Unit of Genomics for Diagnostics of Human Disease and Laboraf, San Raffaele Scientific Institute, Milano, Italy
Search for more papers by this authorLawrence Cavedon
Victorian Research Laboratory, NICTA (National ICT Australia), Parkville, Australia
Search for more papers by this authorYoon Shin Cho
Division of Structural and Functional Genomics, Korean National Institute of Health, Seoul, South Korea
Search for more papers by this authorYeun-Jun Chung
Department of Microbiology and Genomics, Catholic University of Korea, Seoul, South Korea
Search for more papers by this authorMireille Claustres
Université Montpellier 1, Faculté de Médecine and CHU, Laboratoire de Genetique Moleculaire, Montpellier, France
Search for more papers by this authorGarry Cutting
Johns Hopkins University School of Medicine, Institute of Genetic Medicine, Baltimore, Maryland
Search for more papers by this authorRaymond Dalgleish
Department of Genetics, University of Leicester, United Kingdom
Search for more papers by this authorJohan T. den Dunnen
Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
Search for more papers by this authorCarlos Díaz
European Projects Management and Coordination Office, Fundació IMIM, Barcelona, Spain
Search for more papers by this authorSteven Dobrowolski
Research & Development, Idaho Technology, Inc., Salt Lake City, Utah
Search for more papers by this authorM. Rosário N. dos Santos
Centro de Genética Médica J., Magalhães, INSA, Portugall
Search for more papers by this authorRosemary Ekong
Department of Genetics, Evolution and Environment, University College London, United Kingdom
Search for more papers by this authorSimon B. Flanagan
Molecular Genetics, Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, Australia
Search for more papers by this authorPaul Flicek
EMBL—European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom
Search for more papers by this authorYoichi Furukawa
Division of Clinical Genome Research, Institute of Medical Science, The University of Tokyo, Japan
Search for more papers by this authorMaurizio Genuardi
Clinical Pathophysiology, University of Florence, Italy
Search for more papers by this authorHo Ghang
Korean Bioinformation Center, KRIBB, ChungNam, South Korea
Search for more papers by this authorMaria V. Golubenko
Institute of Medical Genetics, Tomsk, Russia
Search for more papers by this authorMarc S. Greenblatt
College of Medicine, University of Vermont, Burlington, Vermont
Search for more papers by this authorAda Hamosh
OMIM and Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland
Search for more papers by this authorJohn M. Hancock
Bioinformatics Group, MRC Harwell, United Kingdom
Search for more papers by this authorRoss Hardison
The Pennsylvania State University, University Park, Pennsylvania
Search for more papers by this authorTerence M. Harrison
Health Sciences Library and The Victorian Mental Health Library, Royal Melbourne Hospital, Parkville, Australia
Search for more papers by this authorRobert Hoffmann
Computer Science and Artificial Intelligence Laboratory, MIT, Cambridge, Massachusetts
Search for more papers by this authorRania Horaitis
Genomic Disorders Research Centre, Melbourne, Australia
Search for more papers by this authorHeather J. Howard
Genomic Disorders Research Centre, Melbourne, Australia
Search for more papers by this authorCarol Isaacson Barash
Genetics, Ethics & Policy Consulting Inc., Boston, Massachusetts
Search for more papers by this authorJongsun Jung
Division of Structural and Functional Genomics, Korean National Institute of Health, Seoul, South Korea
Search for more papers by this authorToshio Kojima
Advanced Computational Sciences Department, RIKEN, Kanagawa, Japan
Search for more papers by this authorSandrine Laradi
Establissement Francais Du sang, Auvergne-Loire, France
Search for more papers by this authorYeon-Su Lee
Functional Genomics Branch, National Cancer Center, Goyang, South Korea
Search for more papers by this authorJong-Young Lee
Division of Structural and Functional Genomics, Korean National Institute of Health, Seoul, South Korea
Search for more papers by this authorVera L. Gil-da-Silva-Lopes
Department of Medical Genetics, State University of Campinas, Brazil
Search for more papers by this authorFinlay A. Macrae
Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia
Search for more papers by this authorMakia J. Marafie
Clinical Genetics, Kuwait Medical Genetics Centre, Kuwait
Search for more papers by this authorSteven G.E. Marsh
HLA Informatics Group, Anthony Nolan Research Institute and Department of Haematology, UCL Cancer Institute, London, United Kingdom
Search for more papers by this authorYoichi Matsubara
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Search for more papers by this authorLudwine M. Messiaen
Department of Genetics, University of Alabama, Birmingham, Alabama
Search for more papers by this authorMihai G. Netea
Department of Medicine, Radboud University Nijmegen Medical Center, The Netherlands
Search for more papers by this authorPeter J. Oefner
Institute of Functional Genomics, University of Regensburg, Germany
Search for more papers by this authorWilliam S. Oetting
Department of Medicine, Genetics, Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota
Search for more papers by this authorAna Maria Oller de Ramirez
Pediatric Clinic Department, School of Medicine, National University of Córdoba, Argentina
Search for more papers by this authorJillian Parboosingh
Medical Genetics, University of Calgary, Alberta, Canada
Search for more papers by this authorGeorge P. Patrinos
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
Search for more papers by this authorGiuditta Perozzi
INRAN—National Research Institute on Food & Nutrition, Rome, Italy
Search for more papers by this authorIan R. Phillips
School of Biological and Chemical Sciences, Queen Mary, University of London, United Kingdom
Search for more papers by this authorSue Povey
Molecular Genetics, Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, Australia
Search for more papers by this authorMing Qi
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
Search for more papers by this authorDavid J. Quin
Funding Health Information Policy, Department of Human Services, Melbourne, Australia
Search for more papers by this authorRajkumar S. Ramesar
Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, South Africa
Search for more papers by this authorC. Sue Richards
OHSU DNA Diagnostic Lab, Oregon Health & Science University, Portland, Oregon
Search for more papers by this authorJudith Savige
Department of Medicine, The University of Melbourne, Epping, Australia
Search for more papers by this authorDagmar G. Scheible
Metabolic Department, Klinik fuer Kinder-und Jugendmedizin, Reutlingen, Germany
Search for more papers by this authorRodney J. Scott
Discipline of Medical Genetics, Faculty of Health, University of Newcastle, Australia
Search for more papers by this authorDaniela Seminara
Division of Cancer Control and Population Sciences, National Cancer Institute, NIH, Bethesda, Maryland
Search for more papers by this authorElizabeth A. Shephard
Department of Structural and Molecular Biology, University College London, United Kingdom
Search for more papers by this authorRolf H. Sijmons
Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands
Search for more papers by this authorTimothy D. Smith
Genomic Disorders Research Centre, Melbourne, Australia
Search for more papers by this authorMaría-Jesús Sobrido
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
Search for more papers by this authorToshihiro Tanaka
Centre for Genome Medicine, RIKEN, Tokyo, Japan
Search for more papers by this authorSean V. Tavtigian
International Agency for Research on Cancer (IARC), Lyon, France
Search for more papers by this authorGraham R. Taylor
Regional DNA Laboratory, Cancer Research, UK Mutation Detection Facility, Leeds, United Kingdom
Search for more papers by this authorJon Teague
Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, United Kingdom
Search for more papers by this authorThoralf Töpel
Technical facility, Bioinformatics Department, Bielefeld University, Germany
Search for more papers by this authorMollie Ullman-Cullere
Harvard Medical School, Partners HealthCare Center for Genetics and Genomics, Cambridge, Massachusetts
Search for more papers by this authorJoji Utsunomiya
Advanced Computational Sciences Department, RIKEN, Kanagawa, Japan
Search for more papers by this authorHenk J. van Kranen
Nutrition & Health, National Inst. Public Health & Environment, Utrecht, The Netherlands
Search for more papers by this authorMauno Vihinen
Institute of Medical Technology, Bioinformatics Group, University of Tampere and Tampere University Hospital, Finland
Search for more papers by this authorElizabeth Webb
Genomic Disorders Research Centre, Melbourne, Australia
Search for more papers by this authorThomas K. Weber
Departments of Surgery and Molecular Genetics, Albert Einstein College of Medicine, New York, New York
Search for more papers by this authorMeredith Yeager
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, Maryland
Search for more papers by this authorYoung I. Yeom
Medical Genomics Research Center, Korea Research Institute of Bioscience & Biotechnology, Daejeon, South Korea
Search for more papers by this authorHyang-Sook Yoo
Fred Hutchinson Cancer Research Center—KRIBB, collaboration center at KRIBB, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon, South Korea
Search for more papers by this authoron behalf of contributors to the Human Variome Project Planning Meeting
Search for more papers by this authorAffiliations 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.
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.
Supporting Information
Additional Supporting Information may be found on the online version of this article.
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