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clingen-data-model
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clinvar-gk-pilot
MIT License
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Draft materials to show transform from ClinVar SCV to GA4GH VarPath Statements
#36
larrybabb
opened
8 months ago
0
Upgrade variation-normalizer to latest version and deploy in dev cluster
#35
toneillbroad
closed
9 months ago
1
Create clinvar-gk-pilot format files of the full 12-30-2023 release of clinvar
#34
toneillbroad
closed
8 months ago
0
Send final gnomad gks cohortAlleleFrequency schema to browser team
#33
larrybabb
closed
11 months ago
1
Add fallback options for variants that fail liftover
#32
theferrit32
opened
1 year ago
0
Write gk-pilot data in VRS 2.0 format to a confluent cloud topic
#31
toneillbroad
closed
1 year ago
1
Perform analysis of workflow engines for orchestration of clinvar file publishing
#30
toneillbroad
closed
11 months ago
1
Implement GKS Maturity Model numbering in GK-pilot and VRS releated repos
#29
toneillbroad
closed
8 months ago
0
Create VRS 2.0 combined GK pilot data file
#28
toneillbroad
closed
1 year ago
1
Delete contents of our public bucket after plenary
#27
theferrit32
opened
1 year ago
0
Make seqrepo archive available in public bucket over unauthenticated http
#26
theferrit32
closed
1 year ago
1
Deploy cloud variant normalizer to vrs 1.3 and re-run clinvar through it
#25
theferrit32
closed
1 year ago
0
Reapply the spdi use of translate_from that was lost when I did a merge
#24
theferrit32
closed
1 year ago
0
Submit file handle fix for seqrepo-rest-service
#23
theferrit32
closed
1 year ago
1
Do liftover for alleles and copy number
#22
theferrit32
closed
1 year ago
0
Added vrs-python from_spdi and from_hgvs.
#21
toneillbroad
closed
1 year ago
0
clingen variation-normalizer instance fails under parallelized load
#20
theferrit32
closed
1 year ago
1
Liftover variants to GRCh38 when possible
#19
theferrit32
closed
1 year ago
0
Replacing call to /to_canonical_variation
#18
theferrit32
closed
1 year ago
0
Run with no length cutoff on client side. Using updated variation normalizer
#17
theferrit32
closed
1 year ago
1
add spdi function and merge main
#16
theferrit32
closed
1 year ago
0
Re-run 2023-04-10 with 10k normalize cutoff
#15
theferrit32
closed
1 year ago
1
Submit fastadir fixes for SeqRepo
#14
theferrit32
closed
1 year ago
2
Investigate jvm->python multithreaded interaction
#13
theferrit32
opened
1 year ago
1
Use the sample variation file to generate ga4gh variation files using vrs-python directly
#12
toneillbroad
closed
1 year ago
0
Create specialized variation test file as basis to generate ga4gh variation files
#11
toneillbroad
closed
1 year ago
0
Full run of variation_identity from 2023-04-10 does not complete
#10
theferrit32
closed
1 year ago
1
Modify variation_identity script to generate micro test sets for dev use
#8
larrybabb
closed
1 year ago
0
Use vrs_xform_plan to determine how to normalize variant
#7
toneillbroad
closed
8 months ago
2
Use HGVS Expression as the label field
#6
toneillbroad
closed
1 year ago
1
Create a local VRS normalization environment
#4
toneillbroad
closed
1 year ago
2
Generate GK Pilot Files in VRS 2.0 Format
#3
toneillbroad
opened
1 year ago
0
Switch SPDI endpoint from to_canonical_variation to translate_from
#2
theferrit32
closed
1 year ago
1
Load variants from variant_identity table and pass through normalizer
#1
theferrit32
closed
1 year ago
1
Handle variants with repeated sequence expression
#9
theferrit32
opened
1 year ago
0