4.8 Review

Genetic Mapping in Human Disease

Journal

SCIENCE
Volume 322, Issue 5903, Pages 881-888

Publisher

AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1156409

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Funding

  1. NHGRI NIH HHS [U54 HG003067, U54 HG003067-03] Funding Source: Medline

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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.

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