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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Bibliographic Details
Published in:	Nature (London) Vol. 447; no. 7145; pp. 655 - 660
Main Authors:	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.
Format:	Journal Article
Language:	English
Published:	London Nature Publishing Group UK 07.06.2007 Nature Publishing Nature Publishing Group
Subjects:	Biological and medical sciences Classical genetics, quantitative genetics, hybrids feature Fundamental and applied biological sciences. Psychology Genetic diversity Genetic Predisposition to Disease - genetics Genetics Genetics of eukaryotes. Biological and molecular evolution Genome, Human - genetics Genomics Genotype Genotype & phenotype Haplotypes - genetics Human Humanities and Social Sciences Humans multidisciplinary Peer Review, Research - standards Phenotype Polymorphism, Single Nucleotide - genetics Reproducibility of Results Science Science (multidisciplinary) Genotype Phenotype Association Investigation method Reproducibility
ISSN:	0028-0836, 1476-4687, 1476-4687
Online Access:	Get full text
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Article-2 ObjectType-Feature-1 content type line 23
ISSN:	0028-0836 1476-4687 1476-4687
DOI:	10.1038/447655a