Planning the human variome project: the Spain report

Autor: Peter J. Oefner, M. V. Golubenko, Jim Kaput, Judith Savige, Helmut Blöcer, Maurizio Genuardi, Toshio Kojima, Ming Qi, Paul Flicek, Vera Lúcia Gil-da-Silva-Lopes, Rodney J. Scott, Sandrine Laradi, Jon W. Teague, Ada Hamosh, María Jesús Sobrido, Mollie Ullman-Cullere, Joji Utsunomiya, Robert Hoffmann, Simon B. Flanagan, Lawrence Cavedon, Steven F. Dobrowolski, Ludwine Messiaen, Elizabeth A. Shephard, Giuditta Perozzi, Mireille Claustres, Sue Povey, Elizabeth Webb, Rolf H. Sijmons, Anne Cambon-Thomsen, Hyang Sook Yoo, Donna Maglott, Gabriela Möslein, Jongsun Jung, Toshihiro Tanaka, Jong Bhak, Yoichi Furukawa, Stacey L. Bleoo, Aida I. Al Aqeel, Mark H. Paalman, Timothy D. Smith, Makia J. Marafie, Jillian S. Parboosingh, Garry R. Cutting, M. Rosário N.Dos Santos, Ho Ghang, Daniela Seminara, Ana María Oller de Ramirez, Mariona Bustamante, Yeun Jun Chung, Carlos Díaz, Fahd Al-Mulla, Terence M. Harrison, John M. Hancock, Michael S. Watson, Rajkumar Ramesar, D. Scheible, Heather J. Howard, Mihai G. Netea, Marc S. Greenblatt, Ian Phillips, John Burn, Santos Alonso, Henk J van Kranen, George P. Patrinos, Carol Isaacson Barash, Suyash Prasad, Neskuts Izagirre, Ross C. Hardison, Inge Bernstein, Thomas K. Weber, Sean V. Tavtigian, Melissa L. Norton, Seon Hee Yim, Mauno Vihinen, Finlay A. Macrae, Rita Calzone, Richard G.H. Cotton, Meredith Yeager, C. Sue Richards, Yoichi Matsubara, Yoon Shin Cho, Arleen D. Auerbach, Johan T. den Dunnen, Young Ii Yeom, Jumana Y. Al-Aama, Raymond Dalgleish, Graham R. Taylor, Yeon Su Lee, Steven G.E. Marsh, Steven E. Brenner, James O'Leary, Rania Horaitis, Stefan Aretz, Bharati Bapat, David J. Quin, Lauren Hardman, Rosemary Ekong, William S. Oetting, Paola Carrera, Michele Cargill, Jong-Young Lee, Thoralf Töpel
Přispěvatelé: Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA. James.kaput@fda.hhs.gov
Rok vydání: 2009
Předmět:
Human genetic variation
Settore MED/03 - GENETICA MEDICA
GLOBAL HEALTH
Genome
MUTATION DATABASE
0302 clinical medicine
Databases
Genetic

HUMAN GENOME
GRAND CHALLENGES
DEVELOPING-COUNTRIES
International HapMap Project
database
Genetics (clinical)
Genetics
0303 health sciences
GENETIC-VARIATION
HUMAN-DISEASE
3. Good health
Pathogenesis and modulation of inflammation [N4i 1]
Phenotype
LOCUS-SPECIFIC DATABASES
030220 oncology & carcinogenesis
Infection and autoimmunity [NCMLS 1]
Genotype
Human Variome Project
Biology
Article
03 medical and health sciences
variome
genetic disease
Humans
Genetic Predisposition to Disease
Genetic variability
INTERNATIONAL HAPMAP PROJECT
MISSENSE VARIANTS
genome
030304 developmental biology
Polymorphism
Genetic

Genome
Human

Information Dissemination
Computational Biology
Genetic Variation
Data science
Human genetics
Variome
Spain
Mutation
Human genome
mutation
Zdroj: Human Mutation, 30, 496-510
Human Mutation, 30, 4, pp. 496-510
ISSN: 1059-7794
DOI: 10.1002/humu.20972
Popis: Contains fulltext : 81952.pdf (Publisher’s version ) (Closed access) 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.
Databáze: OpenAIRE