Calling Large LOH and CNV Events with NGS Exomes

About this webinar

Recorded On: Wednesday, March 8, 2017

Next-Generation Sequencing exomes are a powerful assay used in both clinical and research settings to discover novel and rare small variants. Now a mature part of many labs, exomes consistently provide coverage over hundreds of thousands of targets across the genome.

Along with the small variants, exomes can also be used to call Copy Number Variations, providing extra value for data you may already have and discovering events that may not be captured by any of your existing testing technology.

In this webinar, we will address common questions about calling large events on exome data, including:

  • To what extent can Exomes replace Chromosomal MicroArrays (CMAs) for calling large Copy Number Variations (CNVs)
  • What is the validation strategy for a CNV calling method that finds everything from single-exon events to whole chromosome aneuploidy?
  • How Loss of Homozygosity and Copy Number calls be integrated into one analysis and interpretation workflow

Watch as we review the next generation CNV and LOH calling algorithm coming to VarSeq and provide case-studies and examples of the capabilities of this algorithm and how it fits into the existing powerful VarSeq platform

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