Replicating genotype–phenotype associations

Stephen J. Chanock^1,2, Teri Manolio³, Michael Boehnke⁴, Eric Boerwinkle⁵, David J. Hunter⁶, Gilles Thomas¹, Joel N. Hirschhorn⁷, Goncalo Abecasis⁴, David Altshuler⁸, Joan E. Bailey-Wilson³, Lisa D. Brooks³, Lon R. Cardon⁹, Mark Daly⁸, Peter Donnelly¹⁰, Joseph F. Fraumeni, Jr¹, Nelson B. Freimer¹¹, Daniela S. Gerhard¹², Chris Gunter¹³, Alan E. Guttmacher³, Mark S. Guyer³, Emily L. Harris³, Josephine Hoh¹⁴, Robert Hoover¹, C. Augustine Kong¹⁵, Kathleen R. Merikangas¹⁶, Cynthia C. Morton¹⁷, Lyle J. Palmer¹⁸, Elizabeth G. Phimister¹⁹, John P. Rice²⁰, Jerry Roberts³, Charles Rotimi²¹, Margaret A. Tucker¹, Kyle J. Vogan²², Sholom Wacholder¹, Ellen M. Wijsman²³, Deborah M. Winn²⁴ & Francis S. Collins³ for NCI-NHGRI Working Group on Replication in Association Studies

The study of human genetics has recently undergone a dramatic transition with the completion of both the sequencing of the human genome and the mapping of human haplotypes of the most common form of genetic variation, the single nucleotide polymorphism (SNP)^{1, 2, 3}. In concert with this rapid expansion of detailed genomic information, cost-effective genotyping technologies have been developed that can assay hundreds of thousands of SNPs simultaneously.

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