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Issues: Clinical-Genomics/BALSAMIC
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[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
[Bug] DNAscope gnomad rule failing due to memory
Bug
Something isn't working
Needs Refinement
#1431
opened May 7, 2024 by
mathiasbio
[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
[Assessment] CNV calling in low purity samples
Assessment
Investigation before a user-story can be made
#1401
opened Feb 26, 2024 by
mathiasbio
5 tasks
[Assessment] Do we need additional callers for ITD?
Assessment
Investigation before a user-story can be made
Needs Refinement
[Bug] MulltiQC intermediate JSON files do not store sample id as key
Bug
Something isn't working
#1398
opened Feb 14, 2024 by
ChrOertlin
[User Story] Update CADD to 1.7 to improve variant effect prediction
User-Story
A User-Story describing new functionality
#1390
opened Feb 7, 2024 by
mathiasbio
3 tasks
[User Story] Parallel calling and merging in UMI workflow with different collapse methods
User-Story
A User-Story describing new functionality
[Assessment] Does using call-regions option Manta allow for variants with only 1 BND in target-bed?
Assessment
Investigation before a user-story can be made
#1387
opened Feb 5, 2024 by
mathiasbio
[User Story] Integrate TGA CNV results into GENS
User-Story
A User-Story describing new functionality
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