This is a conference presentation at CSCDA. To view the entire webcast, visit http://www.goldenhelix.com/Events/recordings/CSCDA2010-CNV/index.html. 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.
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Clayway 10 months ago