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Issues: Clinical-Genomics/BALSAMIC
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PoN for GMCKsolid v. 4.2
User-Story
A User-Story describing new functionality
#1460
opened Jun 28, 2024 by
moahaegglund
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
[Bug] Fix tmp-dirs in some leaky rules
Bug
Something isn't working
#1446
opened Jun 12, 2024 by
mathiasbio
[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
#1442
opened May 29, 2024 by
mathiasbio
3 tasks
[User Story] Add adapter trimming to the UMI workflow
User-Story
A User-Story describing new functionality
[User Story] Rebuild PONs with new samples and bioinfo-methods
User-Story
A User-Story describing new functionality
[Assessment] Ensure no strand-bias issues from using UMI-collapsed reads in TNscope
Assessment
Investigation before a user-story can be made
[User Story] LoqusDB for FFPE samples
Urgency Small
User-Story
A User-Story describing new functionality
#1437
opened May 23, 2024 by
khurrammaqbool
3 tasks
[User Story] Parse tumor purity estimate to be fetched for Scout
Effort Medium
Gain Small
Urgency Small
User-Story
A User-Story describing new functionality
#1436
opened May 23, 2024 by
khurrammaqbool
3 tasks
[User Story] Improve CNV calling for target workflow
Gain Large
Needs Refinement
User-Story
A User-Story describing new functionality
#1435
opened May 20, 2024 by
ivadym
2 of 4 tasks
[User Story] Implementation of a unified pre and unified post annotation SV filters
User-Story
A User-Story describing new functionality
#1430
opened Apr 26, 2024 by
khurrammaqbool
3 tasks
[Assessment] Do we need to maintain support for canfam3?
Assessment
Investigation before a user-story can be made
#1427
opened Apr 10, 2024 by
mathiasbio
[Bug] Enable IGH DUX4 detection for hg38
Bug
Something isn't working
Effort Small
Gain Medium
Urgency Small
[User Story] SweGen and CADD reference data
Effort Small
Gain Medium
Needs Refinement
Urgency Medium
User-Story
A User-Story describing new functionality
#1418
opened Mar 12, 2024 by
pbiology
3 tasks
[User Story] COSMIC signatures/profiles
User-Story
A User-Story describing new functionality
#1416
opened Mar 8, 2024 by
mathiasbio
3 tasks
[User Story] Update to GATK 4
Effort Medium
Gain Small
Urgency Large
User-Story
A User-Story describing new functionality
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