gene_phenotype_detail
Check if a gene-trait association replicates across ancestries and biobanks by returning a concordance verdict per gene, distinguishing discordant from underpowered results.
Instructions
Does a gene-trait association replicate across ancestries and biobanks?
BRaVa's distinctive view, and a tool rather than a documented query because the concordance count has to exclude the two pooled strata ('All' and 'non_EUR') that contain the same individuals as the ones being counted. The obvious SQL double-counts and looks entirely reasonable.
Pass a comma-separated list to screen a whole hit list at once: one gene at a time costs a call each, the list form returns a verdict per gene. Verdicts separate "underpowered" from "discordant", which is the distinction that matters when a stratum is fifteen times smaller than another.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| maf | No | "<0.1%" (default) or "<0.01%". | <0.1% |
| gene | Yes | Gene symbol or Ensembl id, or a comma-separated list of them. | |
| mask | No | Variant annotation mask (default "pLoF | damaging missense"). | pLoF | damaging missense |
| test | No | Burden, SKAT or SKAT-O (default SKAT-O). | SKAT-O |
| phenotype | Yes | Trait id or name. |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| result | Yes |