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Replicating genotype–phenotype associations

2007; Nature Portfolio; Volume: 447; Issue: 7145 Linguagem: Inglês

10.1038/447655a

1476-4687

Stephen J. Chanock, Teri A. Manolio, Michael Boehnke, Eric Boerwinkle, David J. Hunter, Gilles Thomas, Joel N. Hirschhorn, Gonçalo R. Abecasis, David Altshuler, Joan E. Bailey‐Wilson, Lisa Brooks, Lon R. Cardon, Mark J. Daly, Peter Donnelly, Joseph F. Fraumeni, Nelson B. Freimer, Daniela S. Gerhard, Chris Gunter, Alan E. Guttmacher, Mark S. Guyer, Emily Harris, Josephine Hoh, Robert N. Hoover, Augustine Kong, Kathleen R. Merikangas, Cynthia C. Morton, Lyle J. Palmer, Elizabeth G. Phimister, John P. Rice, Jerry Roberts, Charles N. Rotimi, Margaret A. Tucker, Kyle Vogan, Sholom Wacholder, Ellen M. Wijsman, Deborah M. Winn, Francis S. Collins,

Bioinformatics and Genomic Networks

What constitutes replication of a genotype–phenotype association, and how best can it be achieved? Reviews of the many genetic association studies published recently give pause for thought: there are many false positives and questionable genotype–phenotype associations in the literature. A working group set up by the National Cancer Institute and National Human Genome Research Institute has been tackling the thorny question of what constitutes replication of a genotype–phenotype association, and the initial results are published this week. Guidelines on best practice for reporting initial and replication studies are presented. But it's clear that a series of studies is sometimes necessary to confirm critical genotype–phenotype associations.