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ACMG classification improvements, gene panels import/export fixes and more
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@northwestwitch northwestwitch released this 16 Oct 13:00
· 8 commits to main since this release
v4.90
dcd473a
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GPG key ID: B5690EEEBB952194
Learn about vigilant mode.

[4.90]

Added

  • Link to chanjo2 MANE coverage overview on case page and panel page
  • More SVI recommendation links on the ACMG page
  • IGV buttons for SMN CN page
  • Warnings on ACMG classifications for potentially conflicting classification pairs
  • ACMG Bayesian foundation point scale after Tavtigian for variant heat profile

Changed

  • Variants query backend allows rank_score filtering
  • Added script to tabulate causatives clinical filter rank
  • Do not display inheritance models associated to ORPHA terms on variant page
  • Moved edit and delete buttons close to gene names on gene panel page and other aesthetical fixes
  • SNV VariantS page functional annotation and region annotation columns merged
  • VariantS pages (not cancer) gene cells show OMIM inheritance pattern badges also without hover
  • STR variantS page to show STR inheritance model without hover (fallback to OMIM for non-Stranger annotation)
  • VariantS page local observation badges have counts visible also without hover
  • On Matchmaker page, show number of matches together with matching attempt date
  • Display all custom inheritance models, both standard and non-standard, as gathered from the gene panel information on the variant page

Fixed

  • Make BA1 fully stand-alone to Benign prediction
  • Modifying Benign terms to "Moderate" has no effect under Richards. Ignored completely before, will retain unmodified significance now
  • Extract all fields correctly when exporting a panel to file from gene panel page
  • Custom updates to a gene in a panel
  • Gene panel PDF export, including gene links
  • Cancer SV, Fusion, MEI and Outlier filters are shown on the Institute Filters overview
  • CaseS advanced search limit
  • Visibility of Matchmaker Exchange matches on dark mode
  • When creating a new gene panel from file, all gene fields are saved, including comments and manual inheritance models
  • Downloading on gene names from EBI
  • Links to gene panels on variant page, summary panel
  • Exporting gene variants when one or more variants' genes are missing HGNC symbol
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