Planning the Human Variome Project: The Spain Report

Jim Kaput; Richard G. H. Cotton; Lauren Hardman; Aida I. Al Aqeel; Jumana Y. Al-Aama; Fahd Al-Mulla; Stefan Aretz; Arleen D. Auerbach; Myles Axton; Bharati Bapat; Inge T. Bernstein; Jong Bhak; Stacey L. Bleoo; Helmut Blöcker; Steven E. Brenner; John Burn; Mariona Bustamante; Rita Calzone; Anne Cambon-Thomsen; Michele Cargill; Paola Carrera; Lawrence Cavedon; Yoon Shin Cho; Yeun-Jun Chung; Mireille Claustres; Garry Cutting; Raymond Dalgleish; Johan T. den Dunnen; Carlos Díaz; Steven Dobrowolski; M. Rosário N. dos Santos; Rosemary Ekong; Simon B. Flanagan; Paul Flicek; Yoichi Furukawa; Maurizio Genuardi; Ho Ghang; Maria V. Golubenko; Marc S. Greenblatt; Ada Hamosh; John M. Hancock; Ross Hardison; Terence M. Harrison; Robert Hoffmann; Rania Horaitis; Heather J. Howard; Carol Isaacson Barash; Neskuts Izagirre; Jongsun Jung; Toshio Kojima; Sandrine Laradi; Yeon-Su Lee; Jong-Young Lee; Vera L. Gil-da-Silva-Lopes; Finlay A. Macrae; Donna Maglott; Makia J. Marafie; Steven G.E. Marsh; Yoichi Matsubara; Ludwine M. Messiaen; Gabriela Möslein; Mihai G. Netea; Melissa L. Norton; Peter J. Oefner; William S. Oetting; James C. O’Leary; Ana Maria Oller de Ramirez; Mark H. Paalman; Jillian Parboosingh; George P. Patrinos; Giuditta Perozzi; Ian R. Phillips; Sue Povey; Suyash Prasad; Ming Qi; David J. Quin; Rajkumar S. Ramesar; C. Sue Richards; Judith Savige; Dagmar G. Scheible; Rodney J. Scott; Daniela Seminara; Elizabeth A. Shephard; Rolf H. Sijmons; Timothy D. Smith; María-Jesús Sobrido; Toshihiro Tanaka; Sean V. Tavtigian; Graham R. Taylor; Jon Teague; Thoralf Töpel; Mollie Ullman-Cullere; Joji Utsunomiya; Henk J. van Kranen; Mauno Vihinen; Michael Watson; Elizabeth Webb; Thomas K. Weber; Meredith Yeager; Young I. Yeom; Seon-Hee Yim; Hyang-Sook Yoo; Human Variome Project Planning

doi:10.1002/humu.20972

Back

Planning the Human Variome Project: The Spain Report

Journal article

Open access

Peer reviewed

Planning the Human Variome Project: The Spain Report

Jim Kaput, Richard G. H. Cotton, Lauren Hardman, Aida I. Al Aqeel, Jumana Y. Al-Aama, Fahd Al-Mulla, Stefan Aretz, Arleen D. Auerbach, Myles Axton, Bharati Bapat, …

Human mutation, Vol.30(4), pp.496-510

04/2009

DOI: https://doi.org/10.1002/humu.20972

PMCID: PMC5879779

PMID: 19306394

Abstract

database

genetic disease

genome

mutation

variome

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. Since 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.

Files and links (1)

url

https://doi.org/10.1002/humu.20972View

Published (Version of record) Open

Metrics

1 Record Views

See more details

Details

Title: Planning the Human Variome Project: The Spain Report
Creators - without role: Jim Kaput - United States Food and Drug Administration
Richard G. H. Cotton - University of Melbourne
Lauren Hardman - United States Food and Drug Administration
Aida I. Al Aqeel - Riyadh Armed Forces Hospital
Jumana Y. Al-Aama - King Abdulaziz University
Fahd Al-Mulla - Kuwait University
Stefan Aretz - University of Bonn
Arleen D. Auerbach - Rockefeller University
Myles Axton - Johns Hopkins University School of Medicine
Bharati Bapat - University of Toronto
Inge T. Bernstein - University of Copenhagen
Jong Bhak - Korea Research Institute of Bioscience and Biotechnology
Stacey L. Bleoo - University of Alberta
Helmut Blöcker - Johns Hopkins University School of Medicine
Steven E. Brenner - University of California, Berkeley
John Burn - Newcastle University
Mariona Bustamante - Johns Hopkins University School of Medicine
Rita Calzone - Johns Hopkins University School of Medicine
Anne Cambon-Thomsen - Inserm
Michele Cargill - Johns Hopkins University School of Medicine
Paola Carrera - Johns Hopkins University School of Medicine
Lawrence Cavedon - Data61
Yoon Shin Cho - Johns Hopkins University School of Medicine
Yeun-Jun Chung - Catholic University of Korea
Mireille Claustres - Johns Hopkins University School of Medicine
Garry Cutting - Johns Hopkins University
Raymond Dalgleish - University of Leicester
Johan T. den Dunnen - Johns Hopkins University School of Medicine
Carlos Díaz - Johns Hopkins University School of Medicine
Steven Dobrowolski - Johns Hopkins University School of Medicine
M. Rosário N. dos Santos - Johns Hopkins University School of Medicine
Rosemary Ekong - University College London
Simon B. Flanagan - Royal Brisbane and Women's Hospital
Paul Flicek - Johns Hopkins University School of Medicine
Yoichi Furukawa - The University of Tokyo
Maurizio Genuardi - University of Florence
Ho Ghang - Korea Research Institute of Bioscience and Biotechnology
Maria V. Golubenko - Russian Academy of Sciences
Marc S. Greenblatt - University of Vermont
Ada Hamosh - Johns Hopkins University
John M. Hancock - Johns Hopkins University School of Medicine
Ross Hardison - Pennsylvania State University
Terence M. Harrison - Royal Melbourne Hospital
Robert Hoffmann - Massachusetts Institute of Technology
Rania Horaitis - Johns Hopkins University School of Medicine
Heather J. Howard - Johns Hopkins University School of Medicine
Carol Isaacson Barash - Johns Hopkins University School of Medicine
Neskuts Izagirre - University of the Basque Country
Jongsun Jung - Johns Hopkins University School of Medicine
Toshio Kojima - Johns Hopkins University School of Medicine
Sandrine Laradi - Johns Hopkins University School of Medicine
Yeon-Su Lee - Johns Hopkins University School of Medicine
Jong-Young Lee - Johns Hopkins University School of Medicine
Vera L. Gil-da-Silva-Lopes - Universidade Estadual de Campinas (UNICAMP)
Finlay A. Macrae - Royal Melbourne Hospital
Donna Maglott - Johns Hopkins University School of Medicine
Makia J. Marafie - Johns Hopkins University School of Medicine
Steven G.E. Marsh - University College London
Yoichi Matsubara - Tohoku University
Ludwine M. Messiaen - University of Alabama at Birmingham
Gabriela Möslein - Johns Hopkins University School of Medicine
Mihai G. Netea - Radboud University Nijmegen
Melissa L. Norton - Johns Hopkins University School of Medicine
Peter J. Oefner - University of Regensburg
William S. Oetting - University of Minnesota
James C. O’Leary - Johns Hopkins University School of Medicine
Ana Maria Oller de Ramirez - Universidad Nacional de Córdoba
Mark H. Paalman - Johns Hopkins University School of Medicine
Jillian Parboosingh - University of Calgary
George P. Patrinos - Erasmus University Rotterdam
Giuditta Perozzi - Johns Hopkins University School of Medicine
Ian R. Phillips - Queen Mary University of London
Sue Povey - Royal Brisbane and Women's Hospital
Suyash Prasad - Johns Hopkins University School of Medicine
Ming Qi - University of Rochester
David J. Quin - Johns Hopkins University School of Medicine
Rajkumar S. Ramesar - University of Cape Town
C. Sue Richards - Johns Hopkins University School of Medicine
Judith Savige - University of Melbourne
Dagmar G. Scheible - Johns Hopkins University School of Medicine
Rodney J. Scott - University of Newcastle Australia
Daniela Seminara - National Institutes of Health
Elizabeth A. Shephard - University College London
Rolf H. Sijmons - University of Groningen
Timothy D. Smith - Johns Hopkins University School of Medicine
María-Jesús Sobrido - Instituto de Salud Carlos III
Toshihiro Tanaka - Johns Hopkins University School of Medicine
Sean V. Tavtigian - International Agency For Research On Cancer
Graham R. Taylor - Johns Hopkins University School of Medicine
Jon Teague - Wellcome Sanger Institute
Thoralf Töpel - Bielefeld University
Mollie Ullman-Cullere - Harvard University
Joji Utsunomiya - Johns Hopkins University School of Medicine
Henk J. van Kranen - Johns Hopkins University School of Medicine
Mauno Vihinen - Johns Hopkins University School of Medicine
Michael Watson - American College of Medical Genetics
Elizabeth Webb - Johns Hopkins University School of Medicine
Thomas K. Weber - Yeshiva University
Meredith Yeager - National Institutes of Health
Young I. Yeom - Korea Research Institute of Bioscience and Biotechnology
Seon-Hee Yim - Johns Hopkins University School of Medicine
Hyang-Sook Yoo - Johns Hopkins University School of Medicine
Human Variome Project Planning
Publication Details: Human mutation, Vol.30(4), pp.496-510
Identifiers: 9913779608331
Academic Unit: Alfaisal University; King Abdulaziz University
Language: English
Resource Type: Journal article