The genetics of copy number variation in a founder population. D. Conrad, M. Abney, C. Ober, J. Pritchard. Dept Human Genetics, Univ Chicago, Chicago, IL.
   There are now numerous approaches for genome-wide ascertainment of human copy number variants (CNVs). Much less work has been done to integrate such variation into traditional methods of genetic analysis. We used the Affymetrix 500k SNP genotyping platform to scan for CNVs in 750 individuals from a young founder population, all of whom have been phenotyped for 25 quantitative traits. A complete genealogy relating these individuals has been constructed from a 12,000-member pedigree. We have identified nearly 1,000 CNVs, including duplications and deletions, ranging in size from hundreds of base pairs to over 1 Mb. In this presentation, we describe new methodology for integrating CNVs into the study of genetic traits. We leverage the pedigree information relating our samples to increase our power to classify CNVs, and to gain new insight into biological properties of CNVs such as the rate of de novo CNV formation, transmission distortion, the location of duplication events, and the relationship between copy-variable genomic regions and the genetic map. We anticipate that our work will help to establish a framework by which CNVs can be incorporated into studies of Mendelian and complex disease.