On the Analysis of Copy-Number Variations in Genome-Wide Association Studies: A Translation of the Family-Based Association Test

• Activity Number: 43
• Type: Invited
• Date/Time: Sunday, August 3, 2008 : 4:00 PM to 5:50 PM
• Sponsor: IMS
• Author(s): Christoph Lange*+
• Companies: Harvard School of Public Health
• Keywords: Family-based association test ; Copy Number Variants ; Asthma

Abstract

In this paper, we propose a generalization of family-based association tests (FBATs) to allow for the analysis of CNVs at a genome-wide level. We translate the popular FBAT-approach so that, instead of genotypes, raw intensity values that reflect copy number are used directly in the test statistic, thereby bypassing the need for a CNV genotyping algorithm. Both inherited and de novo CNVs can be analyzed without any prior knowledge about the type of CNV, making it easily applicable to large scale association studies. All robustness properties of the genotype FBAT-approach are maintained and all previously developed FBAT extensions, including FBATs for time-to-onset, multivariate FBATs, and FBAT-testing strategies, can be directly transferred to the analysis of CNVs. Using simulation studies, we evaluate the power and the robustness of the new approach.