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VCF versioning, changelogs, documentation

Open davmlaw opened this issue 4 months ago • 0 comments

Q1. Could you please clarify a recent change to the VCF file?

There was a recent (as far as I can tell) undocumented change to the VCF format - it appears that recently the INFO field CLNREVSTAT" - ClinVar's review status of the germline classfication for the Variation ID had some new values appear:

  • no_classification_provided
  • no_classification_for_the_single_variant
  • criteria_provided,_conflicting_classifications

Are these new or replacements for the old one?

  • no_interpretation_for_the_single_variant -> no_classification_for_the_single_variant
  • criteria_provided,_conflicting_interpretations -> criteria_provided,_conflicting_classifications

Q2. Can you please document review statuses on the webpage using consistent terms

This page https://www.ncbi.nlm.nih.gov/clinvar/docs/review_status/ seems to review statuses that don't match the old or new VCF format: eg "no assertion for the individual variant" - is this a 3rd representation of the same status ("no_interpretation_for_the_single_variant" and "no_classification_for_the_single_variant")?

Another possibility is to have a CHANGELOG on the GitHub to document the VCF

Q3. ClinVar VCF format version

Could you please consider introducing a "ClinVar VCF version" (semantic versions) that is in the VCF header?

That way VCF consumers can know whether there are breaking changes to the format

davmlaw avatar Feb 12 '24 02:02 davmlaw