# ClinGen high-confidence gene–disease validity

This panel reconstructs the version history of ClinGen Gene–Disease Validity classifications from official GeneGraph downloads.

## Outcome

One event is the first **Approved** `Strong` or `Definitive` classification for a unique:

```text
gene × disease × mode of inheritance
```

The date is the `Approved` contribution date in the GeneGraph version record.

This is an expert-validation outcome. It is not the date on which the underlying biological relationship was first discovered.

## Denominator

For each quarter, the risk set contains relationships that have already entered ClinGen classification but have not yet reached Strong or Definitive status.

The reported rate is:

```text
first Strong-or-Definitive events
──────────────────────────────────────────── × 100
start-of-quarter risk set + 0.5 × new entrants
```

The half-quarter convention approximates exposure for relationships first entering the classified set during the quarter.

## Sources

- full historical GeneGraph JSON archive;
- latest GeneGraph JSON archive;
- current ClinGen Gene–Disease Validity CSV for readable labels and expert-panel names.

The source archives are hashed but not redistributed. Derived version history, relationship history, observations, and source metadata are published.

## Files

- `history.csv` — one row per substantive historical classification version;
- `relationships.csv` — one row per deduplicated gene–disease–inheritance relationship;
- `observations.json` — quarterly risk-set rates;
- `summary.json` — counts, gates, classification composition, and outcome totals;
- `source-manifest.json` — source URLs, sizes, hashes, citation, and reuse note;
- `audit.py` — deterministic rebuild;
- `apply.py` — central registry and observation integration;
- `check.py` — independent consistency checks.

## Interpretation

The panel belongs to **Validation and translation**. It is monitored separately from discovery outcomes and is not eligible for the future cross-domain discovery synthesis.