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clingen-data-model
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genegraph
Presents an RDF triplestore of gene information using GraphQL APIs
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Produce lazy seqs for Jena query results
#739
tnavatar
opened
1 year ago
0
Tristan/queries return lazy seq
#738
tnavatar
closed
1 year ago
0
Fix class-names.edn entries with duplicate SEPIO values
#737
toneillbroad
closed
1 year ago
3
Post release GDV pipeline
#736
toneillbroad
closed
1 year ago
1
Migration changes to support event exceptions
#735
toneillbroad
closed
6 months ago
0
Evaluate and estimate changes necessary to support new GCI Case-control data
#734
toneillbroad
closed
1 year ago
2
Add archival storage policies for genegraph migrations in different GCP environments
#733
toneillbroad
closed
1 year ago
1
Fix to make links to clinvar variants show up
#732
toneillbroad
closed
1 year ago
0
Genegraph not returning ClinVar Variation ID when available
#731
toneillbroad
closed
1 year ago
0
Make legacy website ids consistent with previous site
#730
tnavatar
closed
1 year ago
0
GKPilot ClinVar SCV missing subject variation (externally reported)
#729
larrybabb
closed
1 year ago
4
Proband field "Denovo (paternity/paternity confirmed)" not consistent with GCI
#728
toneillbroad
closed
1 year ago
1
Fix to have methods of detection as ordered list, and allows duplicat…
#727
toneillbroad
closed
1 year ago
0
Resolve ClinVar Haplotype/Genotype variations to non-Text when possible
#726
theferrit32
opened
1 year ago
0
VRS caching, SCV local_key, nrepl option
#725
theferrit32
closed
1 year ago
0
Fix transformer redis start
#724
theferrit32
closed
1 year ago
0
Investigate why multiple of the same Detection Methods are only showing once
#723
toneillbroad
closed
1 year ago
0
[GC Express]: Removal of Colon Cancer GCEP SMAD4 GCEX record
#722
courtneythaxton
closed
1 year ago
3
Normalize all clinvar variations as VRS
#721
theferrit32
closed
1 year ago
1
Research IRI difference between stage and production
#720
toneillbroad
closed
1 year ago
4
reworked affiliation select to use modified date.
#719
toneillbroad
closed
1 year ago
0
Fix score doubling issue for semidominant curations
#718
tnavatar
closed
1 year ago
0
Adjusting calculation of homozygous scores for sd curations
#717
tnavatar
closed
1 year ago
0
Provide genegraph GDV IRI's from "Naughty list" curations for blacklisting
#716
toneillbroad
closed
1 year ago
1
Add some info from git history and envvars to PR body
#715
theferrit32
opened
1 year ago
0
Include COMMIT_SHA in .genegraph_data_version
#714
theferrit32
closed
1 year ago
0
GCEP display on curations sometimes wrong
#713
toneillbroad
closed
1 year ago
1
Add ability to reference data version that is different from image version
#712
theferrit32
closed
1 year ago
3
Deploy gene disease validity configuration on genegraph-gvdev to genegraph-stage
#711
toneillbroad
closed
1 year ago
0
Refactor the handling of affiliations to not rely on gdm:affiliation.
#710
toneillbroad
closed
1 year ago
0
Research and fix curations where all evidence is missing due to missing gdm affiliation
#709
toneillbroad
closed
1 year ago
0
Bifurcate segregation
#708
toneillbroad
closed
1 year ago
0
Normalize copy number counts with a range for the number of copies
#707
theferrit32
opened
1 year ago
2
Make builds easier to debug?
#706
tbl3rd
closed
1 year ago
1
Parallelize event processing
#705
tnavatar
opened
1 year ago
1
Research Classification label issue in gene validity list results
#704
toneillbroad
closed
1 year ago
1
Curation displaying too many family segregation evidence lines
#703
toneillbroad
closed
1 year ago
1
Made sex optional for scoring probands and variants to fix missing pr…
#702
toneillbroad
closed
1 year ago
0
Support parallel event processing from Kafka stream
#701
tnavatar
opened
1 year ago
0
Handle more copy number expression cases
#700
theferrit32
opened
1 year ago
2
Improvements to variant normalization edge cases. Add persistent redis caching.
#699
theferrit32
closed
1 year ago
1
Long duplication/deletion variations fail with timeout
#698
theferrit32
closed
1 year ago
18
Add extensions for SCV Statements
#697
theferrit32
closed
1 year ago
2
Make explanation optional field in rescue evidence
#696
toneillbroad
closed
1 year ago
0
Adding score status to proband cap.
#695
tnavatar
closed
1 year ago
1
Research ordering of methods of detection
#694
toneillbroad
closed
1 year ago
1
Curation missing experimental evidence entry
#693
toneillbroad
closed
1 year ago
0
Trial streaming transformed data for gene validity/dosage
#692
tnavatar
closed
1 year ago
1
Add object descriptors for clinical_assertion Statements
#690
theferrit32
closed
1 year ago
3
Parse evidence document IDs out of clinical assertion nested structures.
#691
theferrit32
opened
1 year ago
0
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