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Releases: EBIvariation/CMAT

v1.1: Drop support for haplotypes and gene2variant→resource_score section

03 Aug 07:08
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  • #128 Expand distribution diagrams of various attributes in ClinVar data with clinical significance, star rating, and mode of inheritance.
  • #135 Drop existing support for haplotypes, since it handled all variants of a haplotype as though they were independent. As can be seen in the report, haplotypes only account for a very minor fraction of ClinVar variants.
  • #136 Remove the resource_score section from gene2variant. This contained a placeholder value, which started to cause problems after recent updates of OT JSON schema.

v1.0: Inaugural release for the mono repository

22 Jul 10:50
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After about 5 years of development of this pipeline, it's probably about time to start doing the formal versioning and releases. Recently I merged everything into one mono repository (this one) and renamed it to eva-opentargets. It contains:

  • The core pipeline used to process ClinVar data and generate Open Targets submission → eva_cttv_pipeline;
  • Batch submission and manual curation documentation → docs;
  • Helper pipelines for querying VEP and for processing repeat expansion variants → vep-mapping-pipeline;
  • Scripts for analysing the ClinVar data model → clinvar-variant-types;
  • Helper scripts for comparing sets of Open Targets evidence strings → compare-evidence-strings.

The versioning scheme used will more or less comply to the semantic versioning approach.