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Planning the Human Variome Project: The Spain report
Author(s) -
Kaput Jim,
Cotton Richard G.H.,
Hardman Lauren,
Watson Michael,
Al Aqeel Aida I.,
AlAama Jumana Y.,
AlMulla Fahd,
Alonso Santos,
Aretz Stefan,
Auerbach Arleen D.,
Bapat Bharati,
Bernstein Inge T.,
Bhak Jong,
Bleoo Stacey L.,
Blöcker Helmut,
Brenner Steven E.,
Burn John,
Bustamante Mariona,
Calzone Rita,
CambonThomsen Anne,
Cargill Michele,
Carrera Paola,
Cavedon Lawrence,
Cho Yoon Shin,
Chung YeunJun,
Claustres Mireille,
Cutting Garry,
Dalgleish Raymond,
den Dunnen Johan T.,
Díaz Carlos,
Dobrowolski Steven,
dos Santos M. Rosário N.,
Ekong Rosemary,
Flanagan Simon B.,
Flicek Paul,
Furukawa Yoichi,
Genuardi Maurizio,
Ghang Ho,
Golubenko Maria V.,
Greenblatt Marc S.,
Hamosh Ada,
Hancock John M.,
Hardison Ross,
Harrison Terence M.,
Hoffmann Robert,
Horaitis Rania,
Howard Heather J.,
Barash Carol Isaacson,
Izagirre Neskuts,
Jung Jongsun,
Kojima Toshio,
Laradi Sandrine,
Lee YeonSu,
Lee JongYoung,
GildaSilvaLopes Vera L.,
Macrae Finlay A.,
Maglott Donna,
Marafie Makia J.,
Marsh Steven G.E.,
Matsubara Yoichi,
Messiaen Ludwine M.,
Möslein Gabriela,
Netea Mihai G.,
Norton Melissa L.,
Oefner Peter J.,
Oetting William S.,
O'Leary James C.,
de Ramirez Ana Maria Oller,
Paalman Mark H.,
Parboosingh Jillian,
Patrinos George P.,
Perozzi Giuditta,
Phillips Ian R.,
Povey Sue,
Prasad Suyash,
Qi Ming,
Quin David J.,
Ramesar Rajkumar S.,
Richards C. Sue,
Savige Judith,
Scheible Dagmar G.,
Scott Rodney J.,
Seminara Daniela,
Shephard Elizabeth A.,
Sijmons Rolf H.,
Smith Timothy D.,
Sobrido MaríaJesús,
Tanaka Toshihiro,
Tavtigian Sean V.,
Taylor Graham R.,
Teague Jon,
Töpel Thoralf,
UllmanCullere Mollie,
Utsunomiya Joji,
van Kranen Henk J.,
Vihinen Mauno,
Webb Elizabeth,
Weber Thomas K.,
Yeager Meredith,
Yeom Young I.,
Yim SeonHee,
Yoo HyangSook
Publication year - 2009
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20972
Subject(s) - international hapmap project , human genetic variation , biology , human genome , hum , 1000 genomes project , population , genetics , computational biology , genome , data science , genotype , computer science , gene , demography , single nucleotide polymorphism , sociology , art , performance art , art history
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.