| name | gene-burden-evidence |
| description | Assess rare-variant gene burden evidence with explicit cohort, ancestry, mask, frequency threshold, model, phenotype, and multiple-testing semantics. Use for gene-level human genetic support and locus-to-gene follow-up. |
| license | MIT |
Gene Burden Evidence
- Define gene/transcript, phenotype, cohort, ancestry, case/control unit, qualifying variant mask, frequency threshold, and statistical model.
- Retrieve a versioned public burden result only from a source whose terms and endpoint are available; otherwise report the source as unavailable instead of fabricating a lookup.
- Preserve mask, consequence definition, sample size, effect direction, confidence interval, p-value, burden/SKAT model, and correction scope.
- Compare independent cohorts and coding/constraint evidence; keep discovery and replication separate.
- Use as one lane in
$cx-locus-to-gene-prioritization, never as a standalone causal proof.
Do not compare differently defined masks or phenotypes as exact replication. GeneBass and similar portals remain availability-gated until a stable, documented public API is verified.
Record source, release, cohort, mask, model, and result with $science-provenance; run $science-review before synthesis.