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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

Investigate multiple mappings in trait mapping database

Ontology mapping

Status: Open.

#428 In EBIvariation/CMAT;

· apriltuesday opened on May 1, 2024

Investigate decrease in used trait mappings from 2024.03 to 2024.06 submissions

Ontology mapping

Status: Open.

#427 In EBIvariation/CMAT;

· apriltuesday opened on May 1, 2024

Speed up evidence string validation

Status: Open.

#422 In EBIvariation/CMAT;

· apriltuesday opened on Mar 4, 2024

Exclude unsupported EFO branches from Open Targets term mapping

Status: Open.

#417 In EBIvariation/CMAT;

· apriltuesday opened on Feb 2, 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

Develop and document curation process to import from MONDO/HP

Status: Open.

#388 In EBIvariation/CMAT;

· tcezard opened on Jun 29, 2023

Documentation for evidence string schema and how fields are generated

Documentation

Status: Open.

#387 In EBIvariation/CMAT;

· apriltuesday opened on Jun 27, 2023