Planning the human variome project: the Spain report.
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.
Kaput
Jim
J
Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA. James.kaput@fda.hhs.gov
Cotton
Richard G H
RG
Hardman
Lauren
L
Watson
Michael
M
Al Aqeel
Aida I
AI
Al-Aama
Jumana Y
JY
Al-Mulla
Fahd
F
Alonso
Santos
S
Aretz
Stefan
S
Auerbach
Arleen D
AD
Bapat
Bharati
B
Bernstein
Inge T
IT
Bhak
Jong
J
Bleoo
Stacey L
SL
Blöcker
Helmut
H
Brenner
Steven E
SE
Burn
John
J
Bustamante
Mariona
M
Calzone
Rita
R
Cambon-Thomsen
Anne
A
Cargill
Michele
M
Carrera
Paola
P
Cavedon
Lawrence
L
Cho
Yoon Shin
YS
Chung
Yeun-Jun
YJ
Claustres
Mireille
M
Cutting
Garry
G
Dalgleish
Raymond
R
den Dunnen
Johan T
JT
Díaz
Carlos
C
Dobrowolski
Steven
S
dos Santos
M Rosário N
MR
Ekong
Rosemary
R
Flanagan
Simon B
SB
Flicek
Paul
P
Furukawa
Yoichi
Y
Genuardi
Maurizio
M
Ghang
Ho
H
Golubenko
Maria V
MV
Greenblatt
Marc S
MS
Hamosh
Ada
A
Hancock
John M
JM
Hardison
Ross
R
Harrison
Terence M
TM
Hoffmann
Robert
R
Horaitis
Rania
R
Howard
Heather J
HJ
Barash
Carol Isaacson
CI
Izagirre
Neskuts
N
Jung
Jongsun
J
Kojima
Toshio
T
Laradi
Sandrine
S
Lee
Yeon-Su
YS
Lee
Jong-Young
JY
Gil-da-Silva-Lopes
Vera L
VL
Macrae
Finlay A
FA
Maglott
Donna
D
Marafie
Makia J
MJ
Marsh
Steven G E
SG
Matsubara
Yoichi
Y
Messiaen
Ludwine M
LM
Möslein
Gabriela
G
Netea
Mihai G
MG
Norton
Melissa L
ML
Oefner
Peter J
PJ
Oetting
William S
WS
O'Leary
James C
JC
de Ramirez
Ana Maria Oller
AM
Paalman
Mark H
MH
Parboosingh
Jillian
J
Patrinos
George P
GP
Perozzi
Giuditta
G
Phillips
Ian R
IR
Povey
Sue
S
Prasad
Suyash
S
Qi
Ming
M
Quin
David J
DJ
Ramesar
Rajkumar S
RS
Richards
C Sue
CS
Savige
Judith
J
Scheible
Dagmar G
DG
Scott
Rodney J
RJ
Seminara
Daniela
D
Shephard
Elizabeth A
EA
Sijmons
Rolf H
RH
Smith
Timothy D
TD
Sobrido
María-Jesús
MJ
Tanaka
Toshihiro
T
Tavtigian
Sean V
SV
Taylor
Graham R
GR
Teague
Jon
J
Töpel
Thoralf
T
Ullman-Cullere
Mollie
M
Utsunomiya
Joji
J
van Kranen
Henk J
HJ
Vihinen
Mauno
M
Webb
Elizabeth
E
Weber
Thomas K
TK
Yeager
Meredith
M
Yeom
Young I
YI
Yim
Seon-Hee
SH
Yoo
Hyang-Sook
HS
D019295:Computational Biology / Q000379:methods / Q000592:standards; D030541:Databases, Genetic; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D015894:Genome, Human / Q000235:genetics*; D005838:Genotype; D006801:Humans; D033181:Information Dissemination; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic; D013030:Spain