title: Copy number variation in the Framingham Heart Study.
abstract: In this paper we test for association between copy number variation and diabetes in a subset of individuals from the Framingham Heart Study. We used the 500 k SNP data and called copy number variation using two algorithms: the genome alteration detection algorithm of Pique-Regi et al. and the software Golden Helix. We then tested for association between copy number and diabetes using a gene-based analysis. Our results show little evidence of association between copy number and diabetes status. Furthermore, our results indicate a relatively poor level of agreement between copy number calls resulting from the two programs. We then examined potential causes for this difference in results and the implications for future studies.
authors.affiliation: Department of Preventive Medicine, Keck School of Medicine, University of Southern California, 1540 Alcazar Street, CHP 220, Los Angeles, California 90089, USA. stir@usc.edu.
authors.forename: Corina
authors.initials: C
authors.lastname: Shtir
authors.forename: Roger
authors.initials: R
authors.lastname: Pique-Regi
authors.forename: Kim
authors.initials: K
authors.lastname: Siegmund
authors.forename: John
authors.initials: J
authors.lastname: Morrison
authors.forename: Fredrick
authors.initials: F
authors.lastname: Schumacher
authors.forename: Paul
authors.initials: P
authors.lastname: Marjoram