Issues

• Investigate CIViC data

  EBIvariation/CMAT#520 · Filter by author apriltuesday opened on Sep 29, 2026
  1

• Investigate removing dependence on ZOOMA in trait mapping

  EBIvariation/CMAT#490 · Filter by author apriltuesday opened on Jan 14, 2026

• Investigate removing dependence on OXO in trait mapping

  EBIvariation/CMAT#489 · Filter by author apriltuesday opened on Jan 14, 2026

• Revisit "susceptibility to disease" and subtype/modifier curation instructions

  EBIvariation/CMAT#475 · Filter by author apriltuesday opened on Aug 18, 2025

• Revisit need for separate repeat expansion processing

  EBIvariation/CMAT#458 · Filter by author apriltuesday opened on Apr 23, 2025

• Support new somatic and oncogenic clinical classifications

  EBIvariation/CMAT#447 · Filter by author apriltuesday opened on Oct 18, 2024
  1

• Speed up evidence string validation

  EBIvariation/CMAT#422 · Filter by author apriltuesday opened on Mar 4, 2024

• Adapt Conda wrapper script for installing from source

  EBIvariation/CMAT#409 · Filter by author apriltuesday opened on Jan 9, 2024

• Documentation for evidence string schema and how fields are generated

  Documentation
  EBIvariation/CMAT#387 · Filter by author apriltuesday opened on Jun 27, 2023
  1

• Investigate use of all trait names vs. preferred trait names in OT evidence generation

  Ontology mapping
  EBIvariation/CMAT#384 · Filter by author apriltuesday opened on Jun 12, 2023
  2

• Current HGVS extraction should also take into account integerValue attribute

  Bug
  EBIvariation/CMAT#372 · Filter by author apriltuesday opened on Apr 4, 2023

• Look into traits with no valid names

  Data
  EBIvariation/CMAT#370 · Filter by author apriltuesday opened on Mar 24, 2023
  2

• Improve functional consequence reporting for structural variants

  complex eventsfunctional consequences
  EBIvariation/CMAT#366 · Filter by author apriltuesday opened on Feb 24, 2023

• Explore pushing mappings file into Github

  manual curation
  EBIvariation/CMAT#364 · Filter by author apriltuesday opened on Jan 31, 2023

• Exploiting VCV IDs for variant representation and aggregation in OpenTargets

  complex eventsDocumentation
  EBIvariation/CMAT#361 · Filter by author M-casado opened on Jan 31, 2023

• Direction of effect for variant consequences

  functional consequences
  EBIvariation/CMAT#356 · Filter by author apriltuesday opened on Jan 6, 2023

• Improve pipeline counts and visualisations

  Documentation
  EBIvariation/CMAT#355 · Filter by author apriltuesday opened on Jan 6, 2023
  2

• Investigate traits associated with imprecise complex variants

  complex events
  EBIvariation/CMAT#354 · Filter by author apriltuesday opened on Jan 6, 2023

• Investigate PanelApp as a source of complex variation

  data sources
  EBIvariation/CMAT#352 · Filter by author apriltuesday opened on Nov 25, 2022
  1

• Revisit acceptable biotypes for consequences

  functional consequences
  EBIvariation/CMAT#328 · Filter by author apriltuesday opened on May 13, 2022

• Investigate using MANE transcripts for consequence prediction

  functional consequences
  EBIvariation/CMAT#317 · Filter by author apriltuesday opened on Mar 30, 2022

• Document data sources already examined and reasons for rejection

  data sources
  EBIvariation/CMAT#312 · Filter by author apriltuesday opened on Feb 11, 2022
  1

• Create process of manual curation and review using OntoString

  OntoString integration
  EBIvariation/CMAT#310 · Filter by author apriltuesday opened on Feb 10, 2022

• Implement import of mappings from OntoString API into evidence string generation pipeline

  OntoString integration
  EBIvariation/CMAT#309 · Filter by author apriltuesday opened on Feb 10, 2022

• Implement export of terms from manual curation pipeline to OntoString API

  OntoString integration
  EBIvariation/CMAT#308 · Filter by author apriltuesday opened on Feb 10, 2022