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Whole genome CNV analysis workflow

Webcast: Emerging Methods in Whole Genome CNV Association

Presenter: Christophe Lambert, PhD., Golden Helix CEO and Co-Chair of the FDA MAQC CNV Team

Date: July 23, 2008

Duration: 70 Minutes

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Abstract

Discussion of new methods and strategies for overcoming challenges of CNV data processing, quality assurance, segmentation, and whole genome association analysis.

Topic Discussed

  • Scaling quantile normalization and virtual array generation to thousands of samples.
  • Calculating log2 ratios against multiple reference populations.
  • Quality assurance steps to assess samples with improperly reported gender.
  • Determining the appropriate number of principle components to correct for batch effects.
  • Using optimal single sample and multi-sample segmentation methods to identify CNVs.
  • Determining appropriate log ratio thresholds to indicate amplifications and deletions.
  • Performing association testing with multiple CNV covariates.

About the Presenter

Dr. Christophe Lambert is the President 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 Food and Drug Administration’s Genome Wide Copy Number Variation Data Analysis Team of the Microarray Quality Control Consortium.

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