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v1.3: Process additional ClinVar attributes

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@tskir tskir released this 16 Sep 14:42
· 653 commits to master since this release

These changes introduce additional ClinVar attributes into the evidence strings, in preparation for implementing a better and more comprehensive scoring mechanism. All changes affect both genetic_association and somatic_mutation evidence strings.

  • #146 Report records with all clinical significance levels
    • Removed filtering by clinical significance throughout the pipeline.
    • Format and process the clinical significance levels according to the new schema, allowing multiple values per record.
    • Removed the obsolete target.activity attribute.
    • Always set the evidence.gene2variant.is_associated and evidence.variant2disease.is_associated fields to True.
  • #148 Add ClinVar star rating and review status
    • Add star rating, which ranges from 0 to 4.
    • Add review status, e.g. criteria provided, conflicting interpretations.
  • #149 Add mode of inheritance
    • Reported as strings verbatim from ClinVar and not additionally processed.
    • This field will contain an array, even when there is only one mode of inheritance (which is true for the majority of all records), for consistency between all records.
  • #150 Add last evaluated date
    • This fields tracks the timestamp of the most recent clinically meaningful update of the record: essentially, the latest (re)evaluation of the clinical significance level.