Replicating genotype–phenotype associations

What constitutes replication of a genotype–phenotype association, and how best can it be achieved? Gene association pitfalls Reviews of the many genetic association studies published recently give pause for thought: there are many false positives and questionable genotype–phenotype associations in t...

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Vydáno v:Nature (London) Ročník 447; číslo 7145; s. 655 - 660
Hlavní autoři: Chanock, Stephen J., Manolio, Teri, Boehnke, Michael, Boerwinkle, Eric, Hunter, David J., Thomas, Gilles, Hirschhorn, Joel N., Abecasis, Goncalo, Altshuler, David, Bailey-Wilson, Joan E., Brooks, Lisa D., Cardon, Lon R., Daly, Mark, Donnelly, Peter, Fraumeni, Joseph F., Freimer, Nelson B., Gerhard, Daniela S., Gunter, Chris, Guttmacher, Alan E., Guyer, Mark S., Harris, Emily L., Hoh, Josephine, Hoover, Robert, Kong, C. Augustine, Merikangas, Kathleen R., Morton, Cynthia C., Palmer, Lyle J., Phimister, Elizabeth G., Rice, John P., Roberts, Jerry, Rotimi, Charles, Tucker, Margaret A., Vogan, Kyle J., Wacholder, Sholom, Wijsman, Ellen M., Winn, Deborah M., Collins, Francis S.
Médium: Journal Article
Jazyk:angličtina
Vydáno: London Nature Publishing Group UK 07.06.2007
Nature Publishing
Nature Publishing Group
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ISSN:0028-0836, 1476-4687, 1476-4687
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Shrnutí:What constitutes replication of a genotype–phenotype association, and how best can it be achieved? Gene association pitfalls 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.
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ISSN:0028-0836
1476-4687
1476-4687
DOI:10.1038/447655a