v4.91 - PanelApp extension, Dashboard advanced search, fixing ClinVar conflicting classifications and more
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
andCallers
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
- On genes panel page, make more evident which genes are new after the panel is updated by @northwestwitch in #4957
- Fix #4970 - empty custom images dict does not crash on load by @dnil in #4971
- Fix #4974 - crash on missing aln file for one of the inds by @dnil in #4975
- WTS outlier copy to clipboard by @Jakob37 in #4981
- Fix #4977 - update IGV.js to 3.0.9 by @dnil in #4978
- Fix #4969 - adress the VCF output of given managed variants by @dnil in #4973
- /api/v1/hpo-terms handles pymongo OperationFailure errors by @northwestwitch in #4984
- Triallelic cancer VAF by @dnil in #4994
- Fix ClinVar form to accept MedGen phenotypes by @northwestwitch in #4998
- Expand ClinVar submission description section to display full info by @northwestwitch in #5000
- add form validate for cancer svs by @dnil in #5014
- Fix STRs variant export by @northwestwitch in #5015
- Fix #5001 - Jarvik for ACMG PP1 modification by @dnil in #5010
- Add MANE badges to the long list of transcripts on variant page by @northwestwitch in #5009
- Display institute _id + display name on dashboard filters by @northwestwitch in #5019
- Fix #5017 - ClinVar classifications of pathogenicity by @dnil in #5020
- Increased visibility of variant callers's "Pass" or "Filtered" on SNVs and SVs variants pages (both RD and cancer variants) by @northwestwitch in #5016
- Fix broken ClinVar submission status enquiry for all submissions after the latest by @northwestwitch in #5022
- Missing track item pt2 by @dnil in #5027
- Fix #4958 - IGV button names and IGV MT overview link by @dnil in #4976
- Advanced cases search on dashboard page by @northwestwitch in #4985
- Fix #5017 pt2 - swings and merry-go-rounds by @dnil in #5028
- Fix typing error when using python 3.9 by @northwestwitch in #5033
- Fix STRs export - part 2 by @northwestwitch in #5035
- Refactor PanelApp panels loading to use the correct PanelApp API by @northwestwitch in #5025
- Better layout for Consequence cell in cancer SNVs page by @northwestwitch in #5040
- Fix STRs variants view by @northwestwitch in #5038
- Franklin variant link by @dnil in #5041
- Fix missing track round3 by @northwestwitch in #5050
- Merge
Qual
andCallers
cell on cancer SNVs page by @northwestwitch in #5045 - Fix missing repeat locus info on STRs export by @northwestwitch in #5052
- Minor release 4.91 by @northwestwitch in #5024
Full Changelog: v4.90.1...v4.91