Documentation / Reference Databases / Update Policy
Database Update Policy
Reference database updates affect variant classification. A variant classified as VUS today may be reclassified as Likely Pathogenic after a ClinVar update adds new clinical evidence. Folklore manages database updates through a controlled process that balances clinical currency with classification stability.
Update Principles
Versioned and Documented
Every reference update is recorded with its source version, load date, row count, provenance, and validation result in the internal reference-data manifest.
Validated Before Deployment
Each database update undergoes regression testing against a reference cohort of known pathogenic and benign variants. Classification changes are reviewed before production deployment.
Atomic Updates
Database updates are applied atomically. All analyses in progress complete with the previous version. New analyses use the updated version. No analysis ever mixes database versions.
Reproducible
Analysis results include the database versions used. Re-analysis of a case with the same database versions will produce identical results.
Update Schedule
| Database | Frequency | Note |
|---|---|---|
| gnomAD | Major release only | Major releases add significant new samples or populations. |
| ClinVar | Quarterly | Quarterly cadence balances currency with validation effort. |
| dbNSFP | Major release only | Includes predictor algorithm updates. |
| SpliceAI | With Ensembl release | Tied to VEP cache version. |
| gnomAD Constraint | With gnomAD | Updated alongside population frequency data. |
| HPO | Quarterly | Phenotype annotations are actively curated. |
| ClinGen | Quarterly | Dosage curation is ongoing. |
| Ensembl VEP | Annual | Includes transcript model updates. |
Validation Process
Before any database update reaches production, the following validation steps are performed:
Record Count Verification
Compare new version record counts against previous version. Unexpected drops in coverage trigger manual review.
Schema Compatibility
Verify that all columns and data types expected by the annotation pipeline are present in the new version.
Reference Cohort Regression
Run classification on a curated set of variants with known pathogenicity. Compare results against expected classifications.
Classification Delta Report
Generate a report of all classification changes between database versions. Review reclassifications for clinical appropriateness.
Deployment Approval
Classification delta report is reviewed. If changes are within acceptable limits, the update is approved for production deployment.
Impact on Existing Analyses
Database updates do not retroactively change existing analysis results. Completed analyses retain their original database versions and classifications. To benefit from updated databases, cases can be re-analyzed using the current database versions. The platform tracks which database versions were used for each analysis.
Version History
Database version changes are documented in the Changelog. Each entry includes the database name, old and new versions, number of classification changes in the reference cohort, and the deployment date.