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Science 7 November 2008:
Vol. 322. no. 5903, pp. 881 - 888
DOI: 10.1126/science.1156409
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Review

Genetic Mapping in Human Disease

David Altshuler,1,2,3,4,5* Mark J. Daly,1,2,5* Eric S. Lander1,6,7,8*

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.

1 Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
2 Center for Human Genetic Research and Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
3 Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA.
4 Department of Genetics, Harvard Medical School, Boston, MA 02114, USA.
5 Department of Medicine, Harvard Medical School, Boston, MA 02114, USA.
6 Department of Systems Biology, Harvard Medical School, Boston, MA 02114, USA.
7 Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
8 Whitehead Institute for Biomedical Research, Cambridge, MA 02142, USA.

* To whom correspondence should be addressed. E-mail: altshuler{at}molbio.mgh.harvard.edu (D.A.); mjdaly{at}chgr.mgh.harvard.edu (M.J.D.); lander{at}broad.mit.edu (E.S.L.)

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