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v4.91 - PanelApp extension, Dashboard advanced search, fixing ClinVar conflicting classifications and more

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@dnil dnil released this 20 Nov 13:31
· 139 commits to main since this release
90c38b3

This release notably contains

  • A new PanelApp extension, using the newer PanelApp API, allows more control building PanelApp "Green" aggregate panels.
  • The Dashboard statistics now also uses the advanced caseS search.
  • ClinVar category 8 had changed to "Conflicting classifications of pathogenicity" instead of "interpretations", causing many conflicting classifications to be presented as CLNSIG "other" on the variantS page. This is fixed for new cases.
  • Some fixes related to the Balsamic 16 release, e.g. prioritising FORMAT.AF over AD for VAF and more accessible display of variant caller on variantS pages.
  • Some LRS related fixes to variant export, and alignment display (IGV v3.0.9).
  • Some fixes to ClinVar submission support.

A special thank you to contributors @molucorner (for Franklin links) and @Jakob37 (for WTS Outlier coordinate copy buttons)!

[4.91]

Added

  • Variant link to Franklin in database buttons (different depending on rare or cancer track)
  • MANE badges on list of variant's Genes/Transcripts/Proteins table, this way also SVs will display MANE annotations
  • Export variant type and callers-related info fields when exporting variants from variantS pages
  • Cases advanced search on the dashboard page
  • Possibility to use only signed off panels when building the PanelApp GREEN panel

Changed

  • On genes panel page and gene panel PDF export, it's more evident which genes were newly introduced into the panel
  • WTS outlier position copy button on WTS outliers page
  • Update IGV.js to v3.0.9
  • Managed variants VCF export more verbose on SVs
  • /api/v1/hpo-terms returns pymongo OperationFailure errors when provided query string contains problematic characters
  • When parsing variants, prioritise caller AF if set in FORMAT over recalculation from AD
  • Expand the submissions information section on the ClinVar submissions page to fully display long text entries
  • Jarvik et al for PP1 added to ACMG modification guidelines
  • Display institute _id + display name on dashboard filters
  • ClinVar category 8 has changed to "Conflicting classifications of pathogenicity" instead of "interpretations"
  • Simplify always loading ClinVar CLNSIG P, LP and conflicting annotations slightly
  • Increased visibility of variant callers's "Pass" or "Filtered" on the following pages: SNV variants (cancer cases), SV variants (both RD and cancer cases)
  • Names on IGV buttons, including an overview level IGV MT button
  • Cases query no longer accepts strings for the name_query parameter, only ImmutableMultiDict (form data)
  • Refactor the loading of PanelApp panels to use the maintained API - Customised PanelApp GREEN panels
  • Better layout for Consequence cell on cancer SNVs page
  • Merged Qual and Callers cell on cancer SNVs page

Fixed

  • Empty custom_images dicts in case load config do not crash
  • Tracks missing alignment files are skipped on generating IGV views
  • ClinVar form to accept MedGen phenotypes
  • Cancer SV variantS page spinner on variant export
  • STRs variants export (do not allow null estimated variant size and repeat locus ID)
  • STRs variants page when one or more variants have SweGen mean frequency but lack Short Tandem Repeat motif count
  • ClinVar submission enquiry status for all submissions after the latest
  • CLI scout update type hint error when running commands using Python 3.9
  • Missing alignment files but present index files could crash the function creating alignment tracks for IGV display
  • Fix missing "Repeat locus" info on STRs export

What's Changed

Full Changelog: v4.90.1...v4.91