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57 Open 162 Closed
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Issues list

Support new somatic and oncogenic clinical classifications
#447 opened Oct 18, 2024 by apriltuesday
1
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
Speed up evidence string validation
#422 opened Mar 4, 2024 by apriltuesday
Exclude unsupported EFO branches from Open Targets term mapping
#417 opened Feb 2, 2024 by apriltuesday
1
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
Adapt Conda wrapper script for installing from source
#409 opened Jan 9, 2024 by apriltuesday
Develop and document curation process to import from MONDO/HP
#388 opened Jun 29, 2023 by tcezard
Documentation for evidence string schema and how fields are generated Documentation
#387 opened Jun 27, 2023 by apriltuesday
1
Investigate use of all trait names vs. preferred trait names in OT evidence generation Ontology mapping
#384 opened Jun 12, 2023 by apriltuesday
1
Revisit Zooma feedback, how it is generated and used
#373 opened Apr 11, 2023 by apriltuesday
Current HGVS extraction should also take into account integerValue attribute Bug
#372 opened Apr 4, 2023 by apriltuesday
Look into traits with no valid names Data
#370 opened Mar 24, 2023 by apriltuesday
2
Improve functional consequence reporting for structural variants complex events Roadmap item 2 (original issue #205) functional consequences
#366 opened Feb 24, 2023 by apriltuesday
Explore pushing mappings file into Github manual curation
#364 opened Jan 31, 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
Improve pipeline counts and visualisations Documentation
#355 opened Jan 6, 2023 by apriltuesday
1
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
1
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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