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Releases: Clinical-Genomics/scout

Fixed crashing MT report and missing pedigree images

20 Dec 16:19
a7cfa16
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[4.94.1]

Fixed

  • Temporary directory generation for MT reports and pedigree files to avoid pages crashing

Case report ACMG VUS temperature, export cases list, and new build system

19 Dec 15:43
bd377ec
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[4.94]

Added

  • Max-level provenance and Software Bill Of Materials (SBOM) to the Docker images pushed to Docker Hub
  • ACMG VUS Bayesian score / temperature on case reports
  • Button to filter and download case individuals/samples from institute's caseS page

Changed

  • On variant page, RefSeq transcripts panel, truncate very long protein change descriptions
  • Build system changed to uv/hatchling, remove setuptools, version file, add project toml and associated files
  • On variantS pages, display chromosome directly on start and end chromosome if different
  • On cancer variantS pages, display allele counts and frequency the same way for SNVs and SVs (refactor macro)
  • Stricter coordinate check in BND variants queries (affecting search results on SV variants page)

Fixed

  • UCSC hg38 links are updated
  • Variants page tooltip errors
  • Cancer variantS page had poor visibility of VAF and chromosome coordinate on causatives (green background)

What's Changed

Full Changelog: v4.93...v4.94

Fix PyPi build action

11 Dec 10:58
54a6559
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[4.93.1]

Fixed

  • Updated PyPi build GitHub action to explicitly include setuptools (for Python 3.12 distro)

ClinGen-CGC-VICC oncogenicity classification and updated Docker base images

11 Dec 09:58
8fdda0e
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Also note that chanjo and chanjo-report releases are available to support new Docker builds.

[4.93]

Added

  • ClinGen-CGC-VICC oncogenicity classification for cancer SNVs
  • A warning to not to post sensitive or personal info when opening an issue

Changed

  • "Show more/less" button to toggle showing 50 observed cases in LoqusDB observation panel
  • Show customer id on share and revoke sharing case collapsible sidebar dialog
  • Switch to python v.3.12 in Dockerfiles and automatic tests

Fixed

  • Limit the size of custom images displayed on case and variant page and add a link to display them in full size in a new tab
  • Classified variants not showing on case report when collaborator adds classification
  • On variantS page, when a variant has more than one gene, then the gene panel badge reflect the panels each gene is actually in
  • Updating genes on a gene panel using a file
  • Link out to Horak 2020 from CCV classify page opens in new tab

What's Changed

New Contributors

Full Changelog: v4.92...v4.93

Delete command options and PanelApp links

29 Nov 15:22
6b7a4a3
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[4.92]

Added

  • PanelApp link on gene page and on gene panels description

Changed

  • Add more filters to the delete variants command (institute ID and text file with list of case IDs)
  • Use the clinicalgenomics/python3.11-venv:1.0 image everywhere in the Dockerfiles

Fixed

  • list/List typing issue on PanelApp extension module

Variant parsing fixes and gene panels page improvements

27 Nov 08:34
bbd676e
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[4.91.2]

Fixed

  • Stranger TRGT parsing of . in FORMAT.MC
  • Parse ClinVar low-penetrance info and display it alongside Pathogenic and likely pathogenic on SNVs pages
  • Gene panel indexes to reflect the indexes used in production database
  • Panel version check while editing the genes of a panel
  • Display unknown filter tags as "danger" marked badges
  • Open WTS variantS SNVs and SVs in new tabs
  • PanelApp panels update documentation to reflect the latest changes in the command line
  • Display panel IDs alongside panel display names on gene panels page
  • Just one Hide removed panels checkbox for all panels on gene panels page
  • Variant filters redecoration from multiple classifications crash on general case report

Structural variantS header fix and IGV.js v3.1.0

22 Nov 14:46
a38bdf1
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[4.91.1]

Fixed

  • Update IGV.js to v3.1.0
  • Columns/headings on SV variantS shifted

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

20 Nov 13:31
90c38b3
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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

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

18 Oct 08:16
d46a7e8
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[4.90.1]

Fixed

  • Parsing Matchmaker Exchange's matches dates

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