Center for Statistical Sciences Seminar

Challenges in the inference of copy number variation (CNV) genotypes and trait associations

Stephen Erickson, Ph.D.
Postdoctoral Fellow
University of Alabama at Birmingham

Friday, May 9, 2008 12:00PM
Room 700, 121 South Main Street, Providence

Copy number variation (CNV) has received increasing attention over the past few years, following findings published in 2004 showing significantly greater CNV content in humans than previously thought (Sebat et al, Iafrate et al). Comparative genomic hybridization microarrays ("CGH arrays") and high-density genotyping microarrays ("SNP arrays") can assay CNV on a genome-wide scale. This talk will describe (1) methods for inferring copy number state from this class of microarrays, (2) a discovery, using these technologies, of CNV between monozygotic twins as well as somatic copy number mosaicism (Bruder et al, 2008), and (3) remaining challenges in the analysis of CNV and CNV association.

Candidate for Assistant Professor (Research) in the Biostatistics Section of the Program in Public Health