Training

Update 1.20.0

New features in varvis®
In this course your will learn about the new features of the varvis® software version 1.20. You may read the sections any time, revisit specific lessons or skip lessons that are not of interest to you. Get in touch if you have any questions.
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This course is exclusive for our varvis® customers. If you are a varvis® user you can now request full access to our free courses including our regular updates and basic courses.
Overview

The latest update of our varvis® software covers the following features

   Literature management

  • The literature management tool allows to document publications relevant for the interpretation and classification of a variant.

   Re-design of inheritance filter

  • The filters now take into account pseudoautosomal regions and compound heterozygosity in relatives.
  • New filters were added to facilitate filtering for de novo variants.

   Improvements for case review

  • Update of genome in IGV
  • New grid with category filters and additional columns in tasks and persons view
  • HPOMatch, HPOSimScore and PAR info available for CNVs and target regions
  • New variant annotations regarding literature, PAR info, latest comment and more
  • Splicing annotations for hg38 setups
  • Update of master data

   QC service

  • Case-specific QC metrics displayed in the case
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Course Lessons

SUpport

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