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cancervariants
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variation-normalization
Services and guidelines for normalizing variants
https://normalize.cancervariants.org/variation/
MIT License
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Use biocommons.hgvs for parsing HGVS expressions
#526
korikuzma
opened
9 months ago
0
fix: hgvs/free text dup/del end positions for definite ranges
#525
korikuzma
closed
9 months ago
0
Fix hgvs/free text dup/del end range positions
#524
korikuzma
closed
9 months ago
1
feat: expose cool-seq-tool feature overlap endpoint
#523
korikuzma
closed
10 months ago
0
Consider lazy loading for class attributes
#522
korikuzma
opened
10 months ago
0
Expose cool-seq-tool get_grch38_mane_gene_cds_overlap endpoint
#521
korikuzma
opened
10 months ago
0
fix: vrs-python translator import statement
#520
korikuzma
closed
10 months ago
0
Add basic API endpoint tests
#519
korikuzma
opened
10 months ago
0
Update /translate_from
#518
korikuzma
closed
10 months ago
1
build!: update depdency versions
#517
korikuzma
closed
10 months ago
0
fix: pin versions + fix /translate_identifier
#516
korikuzma
closed
11 months ago
0
build!: update depdency versions
#515
korikuzma
closed
5 months ago
4
cicd: update release.yml (publish python distribution to pypi)
#514
korikuzma
closed
11 months ago
0
cicd: update release.yml (publish python distribution to pypi)
#513
korikuzma
closed
11 months ago
0
feat!: update to vrs 2.0-alpha
#512
korikuzma
closed
1 year ago
0
fix: catch pydantic ValidationError in parsed to cnv endpoints
#511
korikuzma
closed
1 year ago
0
cicd: update elastic beanstalk eb extensions for python3.11 + p7zip
#510
korikuzma
closed
1 year ago
0
Update prod AWS instance to python3.11
#509
korikuzma
closed
8 months ago
1
feat!: add / update to copy number methods from metaschema branch
#508
korikuzma
closed
1 year ago
0
fix: still return a result for protein/cdna with no mane data found
#507
korikuzma
closed
1 year ago
1
If genomic query fails getting liftover/mane, try using original input to return a response
#506
korikuzma
opened
1 year ago
1
refactor branch: if no mane data is found, still return a result
#505
korikuzma
closed
10 months ago
2
fix: _get_priority_translation_result using wrong variable
#504
korikuzma
closed
1 year ago
0
Refactor
#503
korikuzma
closed
12 months ago
1
Investigate VRS IDs changing for protein free text queries on refactor branch using /normalize
#502
korikuzma
closed
1 year ago
2
fix: add condition when there are no valid results in /to_vrs
#501
korikuzma
closed
1 year ago
0
Add condition when there are no valid results in /to_vrs
#500
korikuzma
closed
1 year ago
1
Stabilize construction of required resources
#499
jsstevenson
opened
1 year ago
0
Add new endpoint for lifting over SPDI + using vrs-python translate from
#498
korikuzma
closed
1 year ago
1
Add support for SPDI nomenclature in /to_vrs and /normalize
#497
korikuzma
opened
1 year ago
0
refactor: rm lingering structural_type
#496
korikuzma
closed
1 year ago
0
Fix GH Action installing deps
#495
korikuzma
opened
1 year ago
0
refactor!: clean up app (metaschema)
#494
korikuzma
closed
1 year ago
0
Considering adding vulture pre-commit hook
#493
korikuzma
opened
1 year ago
1
Update metaschema to pull in refactor changes
#492
korikuzma
closed
1 year ago
1
fix: add `input_assembly` param for gnomad vcf / genomic free text queries
#491
korikuzma
closed
1 year ago
0
Adding input assembly for gnomad vcf queries
#490
korikuzma
opened
1 year ago
2
refactor: gnomad vcf is classified as delins/sub/ref agree
#489
korikuzma
closed
1 year ago
0
refactor: remove duplicated validation code in genomic deletion
#488
korikuzma
closed
1 year ago
0
refactor!: remove structural type from variation descriptor
#487
korikuzma
closed
1 year ago
0
Remove structural type from variation descriptor response
#486
korikuzma
closed
1 year ago
2
refactor: use cool-seq-tool AnnotationLayer and rm CoordinateType
#485
korikuzma
closed
1 year ago
0
fix: hgvs dup del mode dels should be allele w lse
#484
korikuzma
closed
1 year ago
0
chore: have black run before ruff + have it autofix
#483
korikuzma
closed
1 year ago
0
fix: default mode for hgvs dup del mode wrt rse
#482
korikuzma
closed
1 year ago
0
Parameterize `vrs_ref_allele_seq`
#481
korikuzma
opened
1 year ago
0
refactor: remove pyliftover from deps + remove unnecessary check
#480
korikuzma
closed
1 year ago
0
feat: add more support for gnomad VCF expressions in normalize
#479
korikuzma
closed
1 year ago
1
Add more support for gnomad VCF expressions
#478
korikuzma
closed
1 year ago
2
Improve free text query performance
#477
korikuzma
opened
1 year ago
1
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