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Updated: Jul 5, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Data for Genetic Analysis Workshop (GAW) 15, Problem 1: genetics of gene expression variation in humans
Vivian G Cheung1, Richard S Spielman
1The Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA. vcheung@mail.med.upenn.edu
Abstract:
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.
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