The International HapMap Project

被引：3129

作者：

Gibbs, RA

Belmont, JW

Hardenbol, P

Willis, TD

Yu, FL

Yang, HM

Ch'ang, LY

Huang, W

Liu, B

Shen, Y

Tam, PKH

Tsui, LC

Waye, MMY

Wong, JTF

Zeng, CQ

Zhang, QR

Chee, MS

Galver, LM

Kruglyak, S

Murray, SS

Oliphant, AR

Montpetit, A

Hudson, TJ

Chagnon, F

Ferretti, V

Leboeuf, M

Phillips, MS

Verner, A

Kwok, PY

Duan, SH

Lind, DL

Miller, RD

Rice, JP

Saccone, NL

Taillon-Miller, P

Xiao, M

Nakamura, Y

Sekine, A

Sorimachi, K

Tanaka, T

Tanaka, Y

Tsunoda, T

Yoshino, E

Bentley, DR

Deloukas, P

Hunt, S

Powell, D

Altshuler, D

Gabriel, SB

Qiu, RZ

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Human Genome Sequencing Ctr, Houston, TX 77030 USA

[2] ParAllele Biosci, San Francisco, CA 94080 USA

[3] Chinese Acad Sci, Beijing Genom Inst, Beijing 100300, Peoples R China

[4] Acad Sinica, Inst Biomed Sci, Taipei 115, Taiwan

[5] Chinese Natl Human Genome Ctr Shanghai, Shanghai 201203, Peoples R China

[6] Chinese Natl Human Genome Ctr Beijing, Beijing Econ & Technol Dev Zone, Beijing 100176, Peoples R China

[7] Univ Hong Kong, Genome Res Ctr, Pokfulam, Hong Kong, Peoples R China

[8] Univ Hong Kong, Hong Kong, Hong Kong, Peoples R China

[9] Chinese Univ Hong Kong, Dept Biochem, Shatin, Hong Kong, Peoples R China

[10] Hong Kong Univ Sci & Technol, Dept Biochem, Knowloon, Hong Kong, Peoples R China

[11] Illumina, San Diego, CA 92121 USA

[12] McGill Univ, Montreal, PQ H3A 1A4, Canada

[13] Genome Quebec Innovat Ctr, Montreal, PQ H3A 1A4, Canada

[14] Univ Calif San Francisco, Cardiovasc Res Inst, San Francisco, CA 94143 USA

[15] Washington Univ, Sch Med, St Louis, MO 63110 USA

[16] Univ Tokyo, Inst Med Sci, Minato Ku, Tokyo 1088639, Japan

[17] RIKEN, SNP Res Ctr, Tsurumi Ku, Kanagawa 2300045, Japan

[18] RIKEN, Technol Transfer & Res Coordinat Div, Wako, Saitama 35101, Japan

[19] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

[20] Whitehead Inst MIT, Ctr Genome Res, Cambridge, MA 02139 USA

[21] Massachusetts Gen Hosp, Boston, MA 02114 USA

[22] Beijing Normal Univ, Beijing 100875, Peoples R China

[23] Hlth Sci Univ Hokkaido, Ezuko Inst Dev Disabil, Kumamoto 575, Japan

[24] Shinshu Univ, Sch Med, Dept Med Genet, Matsumoto, Nagano 3908621, Japan

[25] Univ Tsukuba, Eubios Eth Inst, Tsukuba, Ibaraki 3058691, Japan

[26] Howard Univ, Natl Human Genome Ctr, Washington, DC 20059 USA

[27] Univ Ibadan, Coll Med, Ibadan, Oyo, Nigeria

[28] Case Western Reserve Univ, Sch Med, Dept Bioeth, Cleveland, OH 44106 USA

[29] Univ Utah, Dept Human Genet, Eccles Inst Human Genet, Salt Lake City, UT 84112 USA

[30] Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

[31] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USA

[32] Univ Oxford, Dept Stat, Oxford OX1 3TG, England

[33] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

[34] Univ Michigan, Dept Biostat, Ctr Stat Genet, Ann Arbor, MI 48109 USA

[35] N Carolina State Univ, Bioinformat Res Ctr, Raleigh, NC 27695 USA

[36] NIH, NHGRI, Bethesda, MD 20892 USA

[37] NIH, Natl Lib Med, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA

[38] Chinese Acad Social Sci, Ctr Appl Eth, Beijing 100054, Peoples R China

[39] Genet Interest Grp, London N1 3QP, England

[40] Kyoto Univ, Inst Res Human, Sakyo Ku, Kyoto 6068501, Japan

[41] Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 8528523, Japan

[42] Univ Montreal, Publ Law Res Ctr, CRDP, Montreal, PQ H3C 3J7, Canada

[43] Univ Oklahoma, Dept Anthropol, Norman, OK 73019 USA

[44] Vanderbilt Univ, Ctr Genet & Hlth Policy, Nashville, TN 37232 USA

[45] Wellcome Trust Res Labs, London NW1 2BE, England

[46] Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

[47] Whitehead Inst MIT, Ctr Genome Res, Cambridge Ctr 9, Cambridge, MA 02142 USA

[48] Chinese Acad Sci, Beijing 100864, Peoples R China

[49] Chinese Minist Sci & Technol, Beijing 100862, Peoples R China

[50] Genome Canada, Ottawa, ON K2P 1P1, Canada

来源：

NATURE | 2003年 / 426卷 / 6968期

关键词：

D O I：

10.1038/nature02168

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The goal of the International HapMap Project is to determine the common patterns of DNA sequence variation in the human genome and to make this information freely available in the public domain. An international consortium is developing a map of these patterns across the genome by determining the genotypes of one million or more sequence variants, their frequencies and the degree of association between them, in DNA samples from populations with ancestry from parts of Africa, Asia and Europe. The HapMap will allow the discovery of sequence variants that affect common disease, will facilitate development of diagnostic tools, and will enhance our ability to choose targets for therapeutic intervention.

引用

页码：789 / 796

页数：8

共 68 条

[1] Extent and distribution of linkage disequilibrium in three genomic regions
Abecasis, GR
Noguchi, E
Heinzmann, A
Traherne, JA
Bhattacharyya, S
Leaves, NI
Anderson, GG
Zhang, YM
Lench, NJ
Carey, A
Cardon, LR
Moffatt, MF
Cookson, WOC
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (01) : 191 - 197
[2] The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
Altshuler, D
Hirschhorn, JN
Klannemark, M
Lindgren, CM
Vohl, MC
Nemesh, J
Lane, CR
Schaffner, SF
Bolk, S
Brewer, C
Tuomi, T
Gaudet, D
Hudson, TJ
Daly, M
Groop, L
Lander, ES
[J]. NATURE GENETICS, 2000, 26 (01) : 76 - 80
[3] An apportionment of human DNA diversity
Barbujani, G
Magagni, A
Minch, E
CavalliSforza, LL
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (09) : 4516 - 4519
[4] A POLYMORPHIC LOCUS NEAR THE HUMAN INSULIN GENE IS ASSOCIATED WITH INSULIN-DEPENDENT DIABETES-MELLITUS
BELL, GI
HORITA, S
KARAM, JH
[J]. DIABETES, 1984, 33 (02) : 176 - 183
[5] Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease
Botstein, D
Risch, N
[J]. NATURE GENETICS, 2003, 33 (Suppl 3) : 228 - 237
[6] Characterization of single-nucleotide polymorphisms in coding regions of human genes
Cargill, M
Altshuler, D
Ireland, J
Sklar, P
Ardlie, K
Patil, N
Lane, CR
Lim, EP
Kalyanaraman, N
Nemesh, J
Ziaugra, L
Friedland, L
Rolfe, A
Warrington, J
Lipshutz, R
Daley, GQ
Lander, ES
[J]. NATURE GENETICS, 1999, 22 (03) : 231 - 238
[7] Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans
Carlson, CS
Eberle, MA
Rieder, MJ
Smith, JD
Kruglyak, L
Nickerson, DA
[J]. NATURE GENETICS, 2003, 33 (04) : 518 - 521
[8] Cavalli-Sforza L. L., 1994, HIST GEOGRAPHY HUMAN
[9] CHAKRAVARTI A, 1984, AM J HUM GENET, V36, P1239
[10] Population genetics - making sense out of sequence
Chakravarti, A
[J]. NATURE GENETICS, 1999, 21 (Suppl 1) : 56 - 60

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