VarSeq 2.3.0: Supporting the Full Spectrum of Genomic Variation

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About this webinar

November 16, 2022

Presented By: Nathan Fortier, Director of Research

Next Generation Sequencing allows for the detection of a wide variety of genomic alterations. This includes small mutations, copy number variants and complex rearrangements. However, it can be difficult to annotate, filter, and interpret these alterations.

As part of our VarSeq 2.3.0 release, we have greatly simplified this process by allowing you to import, annotate, and filter mutations across all spectrums of genomic variation. This supports concurrent importation of small variants and CNVs as well as complex rearrangements. This release also includes strong support for structural variant annotation, filtering, and interpretation, including structural variant effect prediction. After filtering is complete, any clinically relevant structural variants can be interpreted with the VSClinical AMP Guidelines workflow and included in the final clinical report.

Join us for this webcast to discuss VarSeq’s enhanced import and annotation capabilities, including:

  • Concurrent importation of variants CNVs and complex rearrangements
  • Improved multi-threaded import which dramatically speeds up the importation of large VCFs
  • Annotation of structural variants and prediction of effect
  • Interpretation of structural variants in the VSClinical AMP Guidelines workflow
  • Support for visualization and use of CRAM files as input for computing coverage statistics
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