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v2.0.1: Evidence string duplication, literature references, and ontology mapping adjustments

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@tskir tskir released this 15 Mar 13:30
· 565 commits to master since this release
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Version 2.0.1 addresses three groups of issues.

  • Evidence string duplication
    • Verify that all known problems have been resolved (#185).
    • Introduce additional checks prior to submission (#178, #188).
  • Processing of PubMed references
    • Investigate the three types of ClinVar literature references and provide a report (#166, #192).
    • Clarify the different types of PubMed references in the ClinVar XML parser class (#182).
  • Handling string to ontology mappings
    • Verified that the preferred trait names are used consistently across the pipeline (#177).
    • Verified that multiple string-to-ontology mappings are consistently supported across the pipeline, fixed a minor bug and amended documentation (#115).
    • Prevented non-specific terms like “disease” from reappearing in the manual curation results (#179).
    • Fixed a bug in construction of MONDO IRIs from ClinVar data (#175).

See also PR #202.