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Releases: Clinical-Genomics/scout

Optionally hide Alamut button and fixes

26 Aug 13:25
af75246
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[4.38]

Added

  • Option to hide Alamut button in the app config file

Fixed

  • Library deprecation warning fixed (insert is deprecated. Use insert_one or insert_many instead)
  • Update genes command will not trigger an update of database indices any more
  • Missing resources in temporary downloading directory when updating genes using the command line
  • Restore previous variant ACMG classification in a scrollable div
  • Loading spinner not stopping after downloading PDF case reports and variant list export
  • Add extra Alamut links higher up on variant pages
  • Improve UX for phenotypes in case page
  • Filter and export of STR variants
  • Update look of variants page navigation buttons

Changed

Improved cancer case pages, new features and bugfixes

20 Aug 09:28
d0f9383
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[4.37]

Added

  • Highlight and show version number for RefSeq MANE transcripts.
  • Added integration to a rerunner service for toggling reanalysis with updated pedigree information
  • SpliceAI display and parsing from VEP CSQ
  • Display matching tiered variants for cancer variants
  • Display a loading icon (spinner) until the page loads completely
  • Display filter badges in cancer variants list
  • Update genes from pre-downloaded file resources
  • On login, OS, browser version and screen size are saved anonymously to understand how users are using Scout
  • API returning institutes data for a given user: /api/v1/institutes
  • API returning case data for a given institute: /api/v1/institutes/<institute_id>/cases
  • Added GMS and Lund university hospital logos to login page
  • Made display of Swedac logo configurable
  • Support for displaying custom images in case view
  • Individual-specific HPO terms
  • Optional alamut_key in institute settings for Alamut Plus software
  • Case report API endpoint
  • Tooltip in case explaining that genes with genome build different than case genome build will not be added to dynamic HPO panel.
  • Add DeepVariant as a caller

Fixed

  • Updated IGV to v2.8.5 to solve missing gene labels on some zoom levels
  • Demo cancer case config file to load somatic SNVs and SVs only.
  • Expand list of refseq trancripts in ClinVar submission form
  • Renamed All SNVs and INDELs institute sidebar element to Search SNVs and INDELs and fixed its style.
  • Add missing parameters to case load-config documentation
  • Allow creating/editing gene panels and dynamic gene panels with genes present in genome build 38
  • Bugfix broken Pytests
  • Bulk dismissing variants error due to key conversion from string to integer
  • Fix typo in index documentation
  • Fixed crash in institute settings page if "collaborators" key is not set in database
  • Don't stop Scout execution if LoqusDB call fails and print stacktrace to log
  • Bug when case contains custom images with value None
  • Bug introduced when fixing another bug in Scout-LoqusDB interaction
  • Loading of OMIM diagnoses in Scout demo instance
  • Remove the docker-compose with chanjo integration because it doesn't work yet.
  • Fixed standard docker-compose with scout demo data and database
  • Clinical variant assessments not present for pinned and causative variants on case page.
  • MatchMaker matching one node at the time only
  • Remove link from previously tiered variants badge in cancer variants page
  • Typo in gene cell on cancer variants page
  • Managed variants filter form

Changed

  • Better naming for variants buttons on cancer track (somatic, germline). Also show cancer research button if available.
  • Load case with missing panels in config files, but show warning.
  • Changing the (Female, Male) symbols to (F/M) letters in individuals_table and case-sma.
  • Print stacktrace if case load command fails
  • Added sort icon and a pointer to the cursor to all tables with sortable fields
  • Moved variant, gene and panel info from the basic pane to summary panel for all variants.
  • Renamed Basics panel to Classify on variant page.
  • Revamped Basics panel to a panel dedicated to classify variants
  • Revamped the summary panel to be more compact.
  • Added dedicated template for cancer variants
  • Removed Gene models, Gene annotations and Conservation panels for cancer variants
  • Reorganized the orders of panels for variant and cancer variant views
  • Added dedicated variant quality panel and removed relevant panes
  • A more compact case page
  • Removed OMIM genes panel
  • Make genes panel, pinned variants panel, causative variants panel and ClinVar panel scrollable on case page
  • Update to Scilifelab's 2020 logo
  • Update Gens URL to support Gens v2.0 format
  • Refactor tests for parsing case configurations
  • Updated links to HPO downloadable resources
  • Managed variants filtering defaults to all variant categories
  • Changing the (Kind) drop-down according to (Category) drop-down in Managed variant add variant
  • Moved Gens button to individuals table
  • Check resource files availability before starting updating OMIM diagnoses
  • Fix typo in SHOW_OBSERVED_VARIANT_ARCHIVE config param

Splice junction track, menu size and research variant count fixes

28 May 13:26
367b615
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[4.36]

Added

  • Parse and save splice junction tracks from case config file
  • Tooltip in observations panel, explaining that case variants with no link might be old variants, not uploaded after a case rerun

Fixed

  • Warning on overwriting variants with same position was no longer shown
  • Increase the height of the dropdowns to 425px
  • More indices for the case table as it grows, specifically for causatives queries
  • Splice junction tracks not centered over variant genes
  • Total number of research variants count
  • Update variants stats in case documents every time new variants are loaded
  • Bug in flashing warning messages when filtering variants

Changed

  • Clearer warning messages for genes and gene/gene-panels searches in variants filters

Cancer case page, STR formatting improved - and some fixes after previous release

24 May 14:07
b682e43
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[4.35]

Added

  • A new index for hgnc_symbol in the hgnc_gene collection
  • A Pedigree panel in STR page
  • Display Tier I and II variants in case view causatives card for cancer cases

Fixed

  • Send partial file data to igv.js when visualizing sashimi plots with splice junction tracks
  • Research variants filtering by gene
  • Do not attempt to populate annotations for not loaded pinned/causatives
  • Add max-height to all dropdowns in filters

Changed

  • Switch off non-clinical gene warnings when filtering research variants
  • Don't display OMIM disease card in case view for cancer cases
  • Refactored Individuals and Causative card in case view for cancer cases
  • Update and style STR case report

Support for Flask2 and LoqusDB REST API. Fix HGNC symbol search bug and other fixes

19 May 07:39
388c456
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[4.34]

Added

  • Saved filter lock and unlock
  • Filters can optionally be marked audited, logging the filter name, user and date on the case events and general report.
  • Added ClinVar hits and Cosmic hits in cancer SNVs filters
  • Added ClinVar hits to variants filter (rare disease track)
  • Load cancer demo case in docker-compose files (default and demo file)
  • Inclusive-language check using woke github action
  • Add link to HmtVar for mitochondrial variants (if VCF is annotated with HmtNote)
  • Grey background for dismissed compounds in variants list and variant page
  • Pin badge for pinned compounds in variants list and variant page
  • Support LoqusDB REST API queries
  • Add a docker-compose-matchmaker under scout/containers/development to test matchmaker locally
  • Script to investigate consequences of symbol search bug
  • Added GATK to list of SV and cancer SV callers

Fixed

  • Make MitoMap link work for hg38 again
  • Export Variants feature crashing when one of the variants has no primary transcripts
  • Redirect to last visited variantS page when dismissing variants from variants list
  • Improved matching of SVs Loqus occurrences in other cases
  • Remove padding from the list inside (Matching causatives from other cases) panel
  • Pass None to get_app function in CLI base since passing script_info to app factory functions was deprecated in Flask 2.0
  • Fixed failing tests due to Flask update to version 2.0
  • Speed up user events view
  • Causative view sort out of memory error
  • Use hgnc_id for gene filter query
  • Typo in case controllers displaying an error every time a patient is matched against external MatchMaker nodes
  • Do not crash while attempting an update for variant documents that are too big (> 16 MB)
  • Old STR causatives (and other variants) may not have HGNC symbols - fix sort lambda
  • Check if gene_obj has primary_transcript before trying to access it
  • Warn if a gene manually searched is in a clinical panel with an outdated name when filtering variants
  • ChrPos split js not needed on STR page yet

Changed

  • Remove parsing of case genome_version, since it's not used anywhere downstream
  • Introduce deprecation warning for Loqus configs that are not dictionaries
  • SV clinical filter no longer filters out sub 100 nt variants
  • Count cases in LoqusDB by variant type
  • Commit pulse repo badge temporarily set to weekly
  • Sort ClinVar submissions objects by ascending "Last evaluated" date
  • Refactored the MatchMaker integration as an extension
  • Replaced some sensitive words as suggested by woke linter
  • Documentation for load-configuration rewritten.
  • Add styles to MatchMaker matches table
  • More detailed info on the data shared in MatchMaker submission form

Standard inheritance models in Clinvar and other causatives crash fix

27 Apr 12:32
3db3a8b
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[4.33.1]

Fixed

Filter cases and dashboard by track, IGV update

26 Apr 07:52
9b4255e
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[4.33]

Fixed

  • Command line crashing when updating an individual not found in database
  • Dashboard page crashing when filters return no data
  • Cancer variants filter by chromosome
  • /api/v1/genes now searches for genes in all genome builds by default
  • Upgraded igv.js to version 2.8.1 (Fixed Unparsable bed record error)

Added

  • Autodeploy docs on release
  • Documentation for updating case individuals tracks
  • Filter cases and dashboard stats by analysis track

Changed

  • Changed from deprecated db update method
  • Pre-selected fields to run queries with in dashboard page
  • Do not filter by any institute when first accessing the dashboard

Fix institute cases page crashing when a case has track:Null

16 Apr 11:26
d3d79fa
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[4.32.1]

Fixed

  • iSort lint check only
  • Institute cases page crashing when a case has track:Null

MITOMAP annotations support, Splice Junction Tracks and maintenance

15 Apr 13:02
a35a3d9
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[4.32]

Added

  • Load and show MITOMAP associated diseases from VCF (INFO field: MitomapAssociatedDiseases, via HmtNote)
  • Show variant allele frequencies for mitochondrial variants (GRCh38 cases)
  • Extend "public" json API with diseases (OMIM) and phenotypes (HPO)
  • HPO gene list download now has option for clinical and non-clinical genes
  • Display gene splice junctions data in sashimi plots
  • Update case individuals with splice junctions tracks
  • Simple Docker compose for development with local build
  • Make Phenomodels subpanels collapsible
  • User side documentation of cytogenomics features (Gens, Chromograph, vcf2cytosure, rhocall)
  • iSort GitHub Action

Fixed

  • Show other causative once, even if several events point to it
  • Filtering variants by mitochondrial chromosome for cases with genome build=38
  • HPO gene search button triggers any warnings for clinical / non-existing genes also on first search
  • Fixed a bug in variants pages caused by MT variants without alt_frequency
  • Tests for CADD score parsing function
  • Fixed the look of IGV settings on SNV variant page
  • Cases analyzed once shown as rerun
  • Missing case track on case re-upload
  • Fixed severity rank for SO term "regulatory region ablation"

Changed

  • Refactor according to CodeFactor - mostly reuse of duplicated code
  • Phenomodels language adjustment
  • Open variants in a new window (from variants page)
  • Open overlapping and compound variants in a new window (from variant page)
  • gnomAD link points to gnomAD v.3 (build GRCh38) for mitochondrial variants.
  • Display only number of affected genes for dismissed SVs in general report
  • Chromosome build check when populating the variants filter chromosome selection
  • Display mitochondrial and rare diseases coverage report in cases with missing 'rare' track

Cancer-specific case reports and ClinVar form fix

06 Apr 08:21
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[4.31.1]

Added

Changed

  • Remove mitochondrial and coverage report from cancer cases sidebar

Fixed

  • ClinVar page when dbSNP id is None