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Issues: Clinical-Genomics/BALSAMIC
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[User Story] Keep both FOUND_IN variantcaller tags in merged variants
User-Story
A User-Story describing new functionality
Matching causative IGH::DUX4 not displayed on case page - works from variant page
Bug
Something isn't working
#1515
opened Dec 20, 2024 by
dnil
[User Story] Add maximum RPA filter to TNscope in TGA
User-Story
A User-Story describing new functionality
[User Story] Add loqusdb of somatic calls for panel cases
User-Story
A User-Story describing new functionality
[User Story] Support generating vcf files for upload to genotype for cases with only one normal sample
User-Story
A User-Story describing new functionality
#1510
opened Dec 5, 2024 by
beatrizsavinhas
3 tasks
[User Story] Apply strandbias filter for WGS TN workflow
User-Story
A User-Story describing new functionality
#1505
opened Nov 26, 2024 by
mathiasbio
3 tasks
[User Story] Add new oncogenic values from clinvar
User-Story
A User-Story describing new functionality
[Assessment] Investigate DellyCNV variants with LowQual status in INFO field
Assessment
Investigation before a user-story can be made
#1501
opened Nov 14, 2024 by
mathiasbio
[Bug] hg38 fails in balsamic release 16.0.0 validation
Bug
Something isn't working
#1496
opened Oct 24, 2024 by
mathiasbio
[User Story] Delivery of additional CNV and BAF files to Caesar
User-Story
A User-Story describing new functionality
#1493
opened Oct 22, 2024 by
mathiasbio
5 tasks
[User Story] improve IGH-DUX4 presentation in Scout
Needs Refinement
User-Story
A User-Story describing new functionality
#1485
opened Oct 11, 2024 by
mathiasbio
3 tasks
[User Story] Remove UMI family-size filtering for normal sample
User-Story
A User-Story describing new functionality
#1482
opened Oct 1, 2024 by
mathiasbio
3 tasks
[Maintenance] Standardise bait set and capture kit terminology
Maintenance
Something which needs to be updated
#1476
opened Aug 26, 2024 by
mathiasbio
3 tasks
[User Story] Update TIDDIT to make use of single-end reads
User-Story
A User-Story describing new functionality
#1467
opened Jul 25, 2024 by
mathiasbio
3 tasks
[Bug] Clear variant missing in TNscope T/N WGS case
Bug
Something isn't working
#1458
opened Jun 26, 2024 by
mathiasbio
[Maintenance] Update gene model annotation resources
Maintenance
Something which needs to be updated
#1455
opened Jun 24, 2024 by
dnil
3 tasks
[User Story] Rebuild GENS PON for better X coverage
User-Story
A User-Story describing new functionality
#1449
opened Jun 18, 2024 by
mathiasbio
3 tasks
[User Story] Remove low-mappability variants from gnomad vcf used for GENS
User-Story
A User-Story describing new functionality
#1447
opened Jun 14, 2024 by
mathiasbio
3 tasks
[User Story] Ensure up to date Miro board of balsamic exists
User-Story
A User-Story describing new functionality
#1445
opened Jun 11, 2024 by
mathiasbio
3 tasks
[User Story] Add more SV databases for frequency filtering
User-Story
A User-Story describing new functionality
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