Search results

Investigate removing dependence on ZOOMA in trait mapping

Status: Open.

#490 In EBIvariation/CMAT;

· apriltuesday opened on Jan 14, 2026

Investigate removing dependence on OXO in trait mapping

Status: Open.

#489 In EBIvariation/CMAT;

· apriltuesday opened on Jan 14, 2026

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

Status: Open.

#475 In EBIvariation/CMAT;

· apriltuesday opened on Aug 18, 2025

Revisit need for separate repeat expansion processing

Status: Open.

#458 In EBIvariation/CMAT;

· apriltuesday opened on Apr 23, 2025

Support new somatic and oncogenic clinical classifications

Status: Open.

#447 In EBIvariation/CMAT;

· apriltuesday opened on Oct 18, 2024

Include ClinVar xrefs in manual curation spreadsheet

manual curation

Status: Open.

#429 In EBIvariation/CMAT;

· apriltuesday opened on May 14, 2024

Speed up evidence string validation

Status: Open.

#422 In EBIvariation/CMAT;

· apriltuesday opened on Mar 4, 2024

Process to handle meaningful but non-mappable trait terms

manual curation

Status: Open.

#413 In EBIvariation/CMAT;

· apriltuesday opened on Jan 19, 2024

Adapt Conda wrapper script for installing from source

Status: Open.

#409 In EBIvariation/CMAT;

· apriltuesday opened on Jan 9, 2024

Documentation for evidence string schema and how fields are generated

Documentation

Status: Open.

#387 In EBIvariation/CMAT;

· apriltuesday opened on Jun 27, 2023

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

Ontology mapping

Status: Open.

#384 In EBIvariation/CMAT;

· apriltuesday opened on Jun 12, 2023

Current HGVS extraction should also take into account integerValue attribute

Bug

Status: Open.

#372 In EBIvariation/CMAT;

· apriltuesday opened on Apr 4, 2023