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This article is part of the supplement: Genetic Analysis Workshop 15: Gene Expression Analysis and Approaches to Detecting Multiple Functional Loci

Open Access Proceedings

Data for Genetic Analysis Workshop (GAW) 15, Problem 1: genetics of gene expression variation in humans

Vivian G Cheung123 and Richard S Spielman2*

Author Affiliations

1 The Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA

2 Department of Genetics, University of Pennsylvania School of Medicine, 415 Curie Blvd, Philadelphia, Pennsylvania 19104-6145, USA

3 Department of Pediatrics, University of Pennsylvania School of Medicine, 3516 Civic Center Blvd, ARC 516, Philadelphia, Pennsylvania 19104, USA

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BMC Proceedings 2007, 1(Suppl 1):S2  doi:

Published: 18 December 2007


Here we describe the data provided for Problem 1 of Genetic Analysis Workshop 15. The data provided for Problem 1 were unusual in two ways. First, the phenotype was the level of gene expression for each gene, not a conventional phenotype like height or disease, and second, there were more than 3500 such phenotypes. Natural variation in gene expression was a new idea in 2004 when these data were collected and published. Because the phenotypes were measured in members of 14 Centre d'Etude du Polymorphisme Humain (CEPH) families, there was an opportunity for linkage mapping on a very large scale. For this purpose, 2882 single-nucleotide polymorphism genotypes were also provided for each family member.