CSCDA Conference Presentation: Design and Analysis of GWAS using CNVs

Presenter: Dr. Christophe Lambert, Golden Helix Chairman and CEO

Date: August 25, 2010

Duration: 1 Hour, 42 Minutes

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Abstract

Incorporating CNVs into genome-wide association studies promises to explain more of the heritability of disease than that accounted for by SNPs alone. This potential goldmine however, has been plagued by myriad of technical and experimental challenges. We examine the most persistent issues in CNV-based GWAS, including: study design, sample quality control, correcting for batch effects and genomics wave, inherited and de novo copy number detection, CNV-based association testing, and rare variant analysis. 

About the Presenter

Dr. Christophe Lambert is the Chairman and CEO of Golden Helix, Inc., a bioinformatics company he founded in Bozeman, MT in 1998. Dr. Lambert graduated with his Bachelors in Computer Science from Montana State University in 1992 and received his Ph.D. in Computer Science from Duke University in 1997. Dr. Lambert is also currently the co-chair of the Genome Wide Copy Number Variation Data Analysis Team of the Microarray Quality Control Consortium.