Combined Impact: New Tools to Assess Complex and Compound Heterozygous Variants with VarSeq

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About this webinar

September 18, 2024

Presented By: Julia Love & Jennifer Dankoff

The value of complex variant analysis has become increasingly apparent as long-read sequencing technologies provide us with more detailed data. However, the need for sophisticated tools to fully harness this data is crucial. VarSeq 2.6.2 addresses this need by introducing new support for analyzing complex variants, including advanced visualizations and algorithms that enhance our ability to assess the combined clinical impact of these variants. Join us for the upcoming webcast where we will:

  • Examine complex variants alongside their allelic primitives.
  • Utilize variant phase information to explore potential compound het variants and the combined effect of nearby variants.
  • The long-awaited release of our SNP and CNV compound het algorithm in a trio workflow.
  • And last, a sneak-peek at our upcoming Methylation analysis capabilities in VarSeq.

    • This session will provide valuable insights into taking advantage of these new tools to advance your analysis capabilities.

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