Journal Article

Replicating genotype–phenotype associations

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

2007

Overview

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.

• Publisher: Nature Publishing Group UK,Nature Publishing,Nature Publishing Group
• Subject: 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)