Genetic Mapping in Human Disease

被引：936

作者：

Altshuler, David ^{[1
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,4
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,6
,7
]}

Daly, Mark J. ^{[1
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,3
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]}

Lander, Eric S. ^{[1
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]}

机构：

[1] Broad Inst Harvard & MIT, Cambridge, MA 02142 USA

[2] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA

[3] Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USA

[4] Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USA

[5] Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA

[6] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02114 USA

[7] Harvard Univ, Sch Med, Dept Med, Boston, MA 02114 USA

[8] Harvard Univ, Sch Med, Dept Syst Biol, Boston, MA 02114 USA

[9] MIT, Dept Biol, Cambridge, MA 02139 USA

[10] Whitehead Inst Biomed Res, Cambridge, MA 02142 USA

来源：

SCIENCE | 2008年 / 322卷 / 5903期

关键词：

D O I：

10.1126/science.1156409

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：

Genetic mapping provides a powerful approach to identify genes and biological processes underlying any trait influenced by inheritance, including human diseases. We discuss the intellectual foundations of genetic mapping of Mendelian and complex traits in humans, examine lessons emerging from linkage analysis of Mendelian diseases and genome- wide association studies of common diseases, and discuss questions and challenges that lie ahead.

引用

页码：881 / 888

页数：8

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