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Pearson, J V; Huentelman, M J; Halperin, R F; Tembe, W D; Melquist, S; Homer, N; Brun, M; Szelinger, S; Coon, K D; Zismann, V L; Webster, J A; Beach, T; Sando, S B; Aasly, J O; Heun, R; Jessen, F; Kölsch, H; Tsolaki, M; Daniilidou, M; Reiman, E M; Papassotiropoulos, A; Hutton, M L; Stephan, D A; Craig, D W (2007). Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies. American Journal of Human Genetics, 80(1):126-139.

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We report the development and validation of experimental methods, study designs, and analysis software for pooling-based genomewide association (GWA) studies that use high-throughput single-nucleotide-polymorphism (SNP) genotyping microarrays. We first describe a theoretical framework for establishing the effectiveness of pooling genomic DNA as a low-cost alternative to individually genotyping thousands of samples on high-density SNP microarrays. Next, we describe software called "GenePool," which directly analyzes SNP microarray probe intensity data and ranks SNPs by increased likelihood of being genetically associated with a trait or disorder. Finally, we apply these methods to experimental case-control data and demonstrate successful identification of published genetic susceptibility loci for a rare monogenic disease (sudden infant death with dysgenesis of the testes syndrome), a rare complex disease (progressive supranuclear palsy), and a common complex disease (Alzheimer disease) across multiple SNP genotyping platforms. On the basis of these theoretical calculations and their experimental validation, our results suggest that pooling-based GWA studies are a logical first step for determining whether major genetic associations exist in diseases with high heritability.


111 citations in Web of Science®
114 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Psychiatric University Hospital Zurich > Division of Psychiatric Research and Clinic for Psychogeriatric Medicine
Dewey Decimal Classification:610 Medicine & health
Deposited On:06 Sep 2011 08:51
Last Modified:05 Apr 2016 14:59
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:10.1086/510686
PubMed ID:17160900

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