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populationgenomics
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talos
Rare Disease variant reanalysis tool
MIT License
6
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4
forks
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Report splitting
#403
MattWellie
closed
5 months ago
0
Never reuse Hail checkpoints
#402
MattWellie
closed
5 months ago
0
Meaningful first_seen date
#401
MattWellie
closed
5 months ago
3
Async MOI processing
#400
MattWellie
opened
5 months ago
0
Add some stagger to PanelApp calls?
#399
MattWellie
closed
2 months ago
0
Truncate and source column
#398
MattWellie
closed
5 months ago
0
Don't fail when no liftover Model is required
#397
MattWellie
closed
6 months ago
0
So.. STRs?
#396
MattWellie
opened
6 months ago
3
Model liftover methods
#395
MattWellie
closed
6 months ago
0
Fix model creation bug
#394
MattWellie
closed
6 months ago
0
Change HPO storage
#393
MattWellie
closed
6 months ago
0
Adds versions to models
#392
MattWellie
closed
6 months ago
0
Fixes to clinvar processing
#391
MattWellie
closed
6 months ago
3
Add gene level hpo matching to main workflow.
#390
cassimons
closed
2 months ago
2
ClinVar hyperlinks busted
#389
MattWellie
closed
6 months ago
1
ClinVar Re-processing Updates
#388
MattWellie
closed
6 months ago
0
Reduce PanelApp fragility through request retries
#387
MattWellie
closed
6 months ago
0
Potential SV Bug
#386
MattWellie
closed
6 months ago
1
'Local' AIP in Hail
#385
MattWellie
closed
4 months ago
1
Revert all Docker restructuring
#384
MattWellie
closed
6 months ago
1
show_default fix
#383
MattWellie
closed
6 months ago
1
Environment Lock
#382
nevoodoo
closed
6 months ago
0
Make first_seen first seen
#381
cassimons
closed
5 months ago
0
Take Pathogenic SV input from PanelApp
#380
MattWellie
opened
6 months ago
0
Re-work pre commit
#379
MattWellie
closed
6 months ago
0
Change HPO term storage
#378
MattWellie
closed
6 months ago
4
Allow for no categorised variants
#377
MattWellie
closed
6 months ago
0
Add projects list[str] into meta
#376
MattWellie
closed
6 months ago
0
Re-base image
#375
MattWellie
closed
6 months ago
0
Fix failure to export haplo GTs
#374
MattWellie
closed
7 months ago
0
Revert base image
#373
MattWellie
closed
7 months ago
0
AIP should permit multiple VCFs
#372
MattWellie
closed
6 months ago
1
Category 6 & Support Changes
#371
MattWellie
closed
7 months ago
0
Proposal: AlphaMissense Ascendant
#370
MattWellie
closed
7 months ago
1
Writes pheno-specific output to a provided path
#369
MattWellie
closed
7 months ago
0
Bases build on a smaller Hail image, instead of the driver image
#368
MattWellie
closed
7 months ago
0
Allow for interchromosomal split variants
#367
MattWellie
closed
7 months ago
1
CTX SV variants break parser
#366
MattWellie
closed
7 months ago
1
Various stability fixes
#365
MattWellie
closed
7 months ago
0
Fix Cat 4 logic, reorganise methods
#364
MattWellie
closed
7 months ago
0
Seqr minimiser produces a second pheno-matched JSON
#363
MattWellie
closed
8 months ago
0
Implement checkpoint resumption
#362
MattWellie
closed
8 months ago
0
Support vars comply with seqr needs
#361
MattWellie
closed
8 months ago
0
Keep full comp-het where only half is new
#360
MattWellie
closed
8 months ago
0
Capture both sides of a Comp-Het if either side is new
#359
MattWellie
closed
8 months ago
0
Update Seqr minimiser script
#358
MattWellie
closed
7 months ago
1
Improve HPO presentation in reports
#357
MattWellie
closed
8 months ago
0
Add plaintext phenotypes to HPO matching
#356
MattWellie
closed
8 months ago
0
New linter. Readme stickers
#355
MattWellie
closed
8 months ago
0
What's going on here
#354
MattWellie
closed
7 months ago
1
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