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Issues: EBIvariation/CMAT
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Update ClinVar dataset breakdown code for V2 and update sankey diagrams
#433
opened May 24, 2024 by
apriltuesday
Include ClinVar xrefs in manual curation spreadsheet
manual curation
#429
opened May 14, 2024 by
apriltuesday
Investigate multiple mappings in trait mapping database
Ontology mapping
#428
opened May 1, 2024 by
apriltuesday
Investigate decrease in used trait mappings from 2024.03 to 2024.06 submissions
Ontology mapping
#427
opened May 1, 2024 by
apriltuesday
Exclude unsupported EFO branches from Open Targets term mapping
#417
opened Feb 2, 2024 by
apriltuesday
Better processing of exact MONDO/HP mappings not in EFO
manual curation
#414
opened Jan 22, 2024 by
apriltuesday
Process to handle meaningful but non-mappable trait terms
manual curation
#413
opened Jan 19, 2024 by
apriltuesday
Documentation for evidence string schema and how fields are generated
Documentation
#387
opened Jun 27, 2023 by
apriltuesday
Investigate use of all trait names vs. preferred trait names in OT evidence generation
Ontology mapping
#384
opened Jun 12, 2023 by
apriltuesday
Current HGVS extraction should also take into account integerValue attribute
Bug
#372
opened Apr 4, 2023 by
apriltuesday
Improve functional consequence reporting for structural variants
complex events
Roadmap item 2 (original issue #205)
functional consequences
#366
opened Feb 24, 2023 by
apriltuesday
Exploiting VCV IDs for variant representation and aggregation in OpenTargets
complex events
Roadmap item 2 (original issue #205)
Documentation
#361
opened Jan 31, 2023 by
M-casado
Direction of effect for variant consequences
functional consequences
#356
opened Jan 6, 2023 by
apriltuesday
Investigate traits associated with imprecise complex variants
complex events
Roadmap item 2 (original issue #205)
#354
opened Jan 6, 2023 by
apriltuesday
Investigate PanelApp as a source of complex variation
data sources
Roadmap item 3 (original issue #206)
#352
opened Nov 25, 2022 by
apriltuesday
Revisit acceptable biotypes for consequences
functional consequences
#328
opened May 13, 2022 by
apriltuesday
Investigate using MANE transcripts for consequence prediction
functional consequences
#317
opened Mar 30, 2022 by
apriltuesday
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