issues
search
EBIvariation
/
CMAT
ClinVar Mapping and Annotation Toolkit
Apache License 2.0
19
stars
10
forks
source link
issues
Newest
Newest
Most commented
Recently updated
Oldest
Least commented
Least recently updated
Issue-447: Investigation notebook for new somatic/oncogenic clinical classifications
#448
apriltuesday
opened
3 weeks ago
0
Support new somatic and oncogenic clinical classifications
#447
apriltuesday
opened
1 month ago
1
Evidence string generation for 2024.12 release
#446
apriltuesday
closed
2 weeks ago
1
Manual curation for 2024.12 release
#445
apriltuesday
closed
1 month ago
4
Issue 434: Add VCV IDs to evidence strings
#444
apriltuesday
closed
1 month ago
2
Issue 435: Filter gene-related disorder submission from curation and evidence generation
#443
apriltuesday
closed
2 months ago
2
Model for ClinVar submitted records (SCVs)
#442
apriltuesday
closed
2 months ago
0
Remove obsolete review statement
#441
tcezard
closed
3 months ago
0
Fix issue in counts
#440
apriltuesday
closed
3 months ago
0
bump versions for 24.09 submission
#439
apriltuesday
closed
3 months ago
0
Evidence string generation for 2024.09 release
#438
apriltuesday
closed
3 months ago
1
bump requests to 2.32.3
#437
apriltuesday
closed
4 months ago
0
Manual curation for 2024.09 release
#436
apriltuesday
closed
4 months ago
4
Filter generic gene-related condition terms from manual curation and evidence string generation
#435
apriltuesday
closed
2 months ago
3
Add VCV IDs to evidence strings
#434
apriltuesday
closed
1 month ago
1
Update ClinVar dataset breakdown code for V2 and update sankey diagrams
#433
apriltuesday
opened
5 months ago
0
Issue 396 - Migrate to ClinVar XML V2
#432
apriltuesday
closed
5 months ago
0
Bump requests from 2.31.0 to 2.32.0
#431
dependabot[bot]
closed
6 months ago
0
Issue 391 - Updates to EFO feedback processing
#430
apriltuesday
closed
6 months ago
2
Include ClinVar xrefs in manual curation spreadsheet
#429
apriltuesday
opened
6 months ago
0
Investigate multiple mappings in trait mapping database
#428
apriltuesday
opened
6 months ago
0
Investigate decrease in used trait mappings from 2024.03 to 2024.06 submissions
#427
apriltuesday
opened
6 months ago
0
Ensure complete counts report is output to logs dir
#426
apriltuesday
closed
6 months ago
0
Evidence string generation for 2024.06 release
#425
apriltuesday
closed
6 months ago
0
Add labels to nextflow processes for slurm migration
#424
apriltuesday
closed
7 months ago
0
Manual curation for 2024.06 release
#423
apriltuesday
closed
6 months ago
6
Speed up evidence string validation
#422
apriltuesday
opened
8 months ago
0
Issue 416 - Parallelise evidence string generation
#421
apriltuesday
closed
8 months ago
1
Properly count and exclude suppressed / flagged RCVs
#420
apriltuesday
closed
8 months ago
0
Modify counts for when evidence is invalid
#419
apriltuesday
closed
9 months ago
0
Continue parsing records when exceptions occur in evidence generation
#418
apriltuesday
closed
9 months ago
0
Exclude unsupported EFO branches from Open Targets term mapping
#417
apriltuesday
opened
9 months ago
1
Scale up evidence string generation
#416
apriltuesday
closed
8 months ago
1
Evidence string generation for 2024.03 release
#415
apriltuesday
closed
9 months ago
5
Better processing of exact MONDO/HP mappings not in EFO
#414
apriltuesday
opened
10 months ago
0
Process to handle meaningful but non-mappable trait terms
#413
apriltuesday
opened
10 months ago
0
Issue 402: Manual curation fixes from October
#412
apriltuesday
closed
9 months ago
2
Improve automated Zooma mappings
#411
apriltuesday
closed
10 months ago
0
Manual curation for 2024.03 release
#410
apriltuesday
closed
9 months ago
7
Adapt Conda wrapper script for installing from source
#409
apriltuesday
opened
10 months ago
0
Conda documentation
#408
apriltuesday
closed
10 months ago
0
Add ability to use alternate target ontologies
#407
apriltuesday
closed
11 months ago
0
Automate release to Bioconda
#406
apriltuesday
closed
8 months ago
1
Add transcripts to consequences
#405
apriltuesday
closed
11 months ago
0
Conda recipe
#404
apriltuesday
closed
11 months ago
3
Evidence string generation for 2023.12 release
#403
apriltuesday
closed
12 months ago
0
Manual curation fixes from October
#402
apriltuesday
closed
9 months ago
1
Manual curation for 2023.12 release
#401
apriltuesday
closed
1 year ago
10
Update installation instructions
#400
apriltuesday
closed
1 year ago
0
Upload mappings and update readme
#399
apriltuesday
closed
1 year ago
0
Next