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Expanded annotations on report, improved case status and loading support, more ACMG warnings, fixes and updates

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@northwestwitch northwestwitch released this 28 Jan 10:00
· 1 commit to main since this release
a7e0c64

[4.96]

Added

  • Support case status assignment upon loading (by providing case status in the case config file)
  • Severity predictions on general case report for SNVs and cancer SNVs
  • Variant functional annotation on general case report for SNVs and cancer SNVs
  • Version of Scout used when the case was loaded is displayed on case page and general report

Removed

  • Discontinue ClinVar submissions via CSV files and support only submission via API: removed buttons for downloading ClinVar submission objects as CSV files

Changed

  • Display STR variant filter status on corresponding variantS page
  • Warning and reference to Biesecker et al when using PP1/BS4 and PP4 together in ACMG classifications
  • Warning to not use PP4 criterion together with PS2/PM6 in ACMG classifications with reference to the SVI Recommendation for de novo Criteria (PS2 & PM6)
  • Button to directly remove accepted submissions from ClinVar
  • Upgraded libs in uv.lock file

Fixed

  • Release docs to include instructions for upgrading dependencies
  • Truncated long HGVS descriptions on cancer SNV and SNVs pages
  • Avoid recurrent error by removing variant ranking settings in unranked demo case
  • Actually re-raise exception after load aborts and has rolled back variant insertion