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populationgenomics
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automated-interpretation-pipeline
Rare Disease variant prioritisation MVP
MIT License
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Shift output pathing to config file?
#122
MattWellie
closed
1 year ago
8
Autoclass is changing all the file modified dates
#272
MattWellie
closed
1 year ago
5
Splice AI!
#44
MattWellie
closed
1 year ago
5
Noise Reduction - Polybase tracts
#12
MattWellie
opened
2 years ago
5
Isolate Annotation from Seqr loading pipeline
#9
MattWellie
closed
1 year ago
5
Change HPO term storage
#378
MattWellie
closed
1 week ago
4
Revolutionise the Images!
#219
MattWellie
opened
1 year ago
4
Restructure html report
#181
cassimons
closed
1 year ago
4
Filter to new results
#164
MattWellie
closed
1 year ago
4
Additional findings
#110
MattWellie
closed
1 year ago
4
Split Category 4
#24
MattWellie
closed
1 year ago
4
So.. STRs?
#396
MattWellie
opened
3 days ago
3
Fixes to clinvar processing
#391
MattWellie
closed
1 week ago
3
Re-work VEP content
#288
MattWellie
closed
12 months ago
3
Test data model
#279
MattWellie
closed
1 year ago
3
Change Clinvar Hail Table generation to per-line JSON
#174
MattWellie
closed
1 year ago
3
Use Seqr to provide data directly
#152
MattWellie
closed
1 year ago
3
Non-functional refactoring of VEP
#107
vladsavelyev
closed
1 year ago
3
Explain
#104
MattWellie
closed
1 year ago
3
During Dev, run as both family- and singleton-analysis
#32
MattWellie
closed
1 year ago
3
Retrospective Reanalysis Framework
#302
MattWellie
closed
10 months ago
2
Dag correction
#299
MattWellie
closed
11 months ago
2
move metadata registration into a separate process
#278
MattWellie
closed
1 year ago
2
Gnomad -> gnomAD
#259
MattWellie
closed
1 year ago
2
new in prev. 12 months
#217
MattWellie
closed
1 year ago
2
Tag with first time seen
#213
MattWellie
closed
1 year ago
2
Personalised Panels rigidity
#195
MattWellie
closed
1 year ago
2
tag using version, not SHA. Parametrise test tag
#189
MattWellie
closed
1 year ago
2
Run new Clinvar summary with each run?
#188
MattWellie
closed
1 year ago
2
Containerise (low priority)
#180
MattWellie
closed
1 year ago
2
161 base jinja template for report
#169
daniaki
closed
1 year ago
2
Base jinja template for report.
#161
cassimons
closed
1 year ago
2
scripted prototype for seqr interactions
#153
MattWellie
closed
1 year ago
2
Remove image path
#146
MattWellie
closed
1 year ago
2
Import annotation jobs from `cpg_workflows`
#142
vladsavelyev
closed
1 year ago
2
Shift config from JSON to Toml
#128
MattWellie
closed
1 year ago
2
VEP: slight change in setting up mount
#103
vladsavelyev
closed
1 year ago
2
add release script
#102
MattWellie
closed
1 year ago
2
Comparison update
#97
MattWellie
closed
1 year ago
2
Much stricter thresholds
#70
MattWellie
closed
1 year ago
2
Multiple Panels
#46
MattWellie
closed
1 year ago
2
Group Outputs by Families
#45
MattWellie
closed
1 year ago
2
Generate pedigree
#26
MattWellie
closed
1 year ago
2
Parallel processing blocked
#18
MattWellie
closed
1 year ago
2
Add gene level hpo matching to main workflow.
#390
cassimons
opened
1 week ago
1
ClinVar hyperlinks busted
#389
MattWellie
closed
1 week ago
1
Potential SV Bug
#386
MattWellie
closed
1 week ago
1
Revert all Docker restructuring
#384
MattWellie
closed
2 weeks ago
1
show_default fix
#383
MattWellie
closed
2 weeks ago
1
AIP should permit multiple VCFs
#372
MattWellie
closed
1 day ago
1
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