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Releases: Clinical-Genomics/scout

Fixed parsing of Matchmaker Exchange's matches dates causing matchings page to crash

18 Oct 08:16
d46a7e8
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ACMG classification improvements, gene panels import/export fixes and more

16 Oct 13:00
dcd473a
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[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

OMIM-AUTO gene panel gene symbols alias fallback

02 Oct 08:10
1375ec6
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Patch release due to a current issue with in particular one gene symbol alias (POPDC1 aka BVES) on OMIM-AUTO.

[4.89.2]

Fixed

  • If OMIM gene panel gene symbols are not mapping to hgnc_id, allow fallback use of a unique gene alias

Patch general case report

01 Oct 07:01
07ad1e2
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[4.89.1]

Fixed

  • General case report crash when encountering STR variants without source tags
  • Coloring and SV inheritance patterns on general case report

Minor version 4.89 - advanced search, more OMICS load options, chanjo2 for MT report and user level request log

26 Sep 13:38
c5856ce
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[4.89]

Added

  • Button on SMN CN page to search variants within SMN1 and SMN2 genes
  • Options for selectively updating OMICS variants (fraser, outrider) on a case
  • Log users' activity to file by specifying USERS_ACTIVITY_LOG_PATH parameter in app config
  • Mean MT coverage, Mean chrom 14 coverage and Estimated mtDNA copy number on MT coverage file from chanjo2 if available
  • In ClinVar multistep form, preselect ACMG criteria according to the variant's ACMG classification, if available
  • Subject id search from caseS page (supporting multiple sample types e.g.) - adding indexes to speed up caseS queries
  • Advanced cases search to narrow down results using more than one search parameter
  • Coverage report available for any case with samples containing d4 files, even if case has no associated gene panels
  • RNA delivery reports

Changed

  • Documentation for OMICS variants and updating a case
  • Include both creation and deletion dates in gene panels pages
  • Moved code to collect MT copy number stats for the MT report to the chanjo extension
  • On the gene panelS page, show expanded gene panel version list in one column only
  • IGV.js WTS loci default to zoom to a region around a variant instead of whole gene
  • Refactored logging module
  • Case general report no longer shows ORPHA inheritance models. OMIM models are shown colored.
  • Chromosome alias tab files used in the igv.js browser, which now contain the alias for chromosome "M"
  • Renamed "Comment on clinical significance" to "Comment on classification" in ClinVar multistep form
  • Enable Gens CN button also for non-wgs cancer track cases

Fixed

  • Broken heading anchors in the documentation (admin-guide/login-system.md and admin-guide/setup-scout.md files)
  • Avoid open login redirect attacks by always redirecting to cases page upon user login
  • Stricter check of ID of gene panels to prevent file downloading vulnerability
  • Removed link to the retired SPANR service. SPIDEX scores are still parsed and displayed if available from variant annotation.
  • Omics variant view test coverage
  • String pattern escape warnings
  • Code creating Alamut links for variant genes without canonical_transcript set
  • Variant delete button in ClinVar submissions page
  • Broken search cases by case similarity

Patch update igv.js to 3.0.5

09 Sep 06:27
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[4.88.1]

Fixed

  • Patch update igv.js to 3.0.5

Fixed broken database setup command, new -omics variants keys

05 Sep 13:27
ae5b172
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[4.88]

Added

  • Added CoLoRSdb frequency to Pop Freq column on variantS page
  • Hovertip to gene panel names with associated genes in SV variant view, when variant covers more than one gene
  • RNA sample ID can be provided in case load config if different from sample_id

Fixed

  • Broken scout setup database command
  • Update demo VCF header, adding missing keys found on variants
  • Broken upload to Codecov step in Tests & Coverage GitHub action
  • Tomte DROP column names have been updated (backwards compatibility preserved for main fields)
  • WTS outlierS view to display correct individual IDs for cases with multiple individuals
  • WTS outlierS not displayed on WTS outlierS view

Positioning and alignment of genes cell on variantS page

28 Aug 08:11
80df00a
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Quick patch release.

[4.87.1]

Fixed

  • Positioning and alignment of genes cell on variantS page

Configure RNA build, add igv.js genome aliases

27 Aug 12:41
aa2c403
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[4.87]

Added

  • Option to configure RNA build on case load (default '38')

Changed

  • Tooltip on RNA alignments now shows RNA genome build version
  • Updated igv.js to v3.0.4

Fixed

  • Style of "SNVs" and "SVs" buttons on WTS Outliers page
  • Chromosome alias files for igv.js
  • Genes track displayed also when RNA alignments are present without splice junctions track on igv browser
  • Genes track displayed again when splice junction tracks are present

Fix loading and updating of PanelApp panels

23 Aug 06:44
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[4.86.1]

Fixed

  • Loading and updating PanelApp panels, including PanelApp green