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mbaudis committed Feb 7, 2025
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9 changes: 9 additions & 0 deletions docs/terms-and-values.md
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Expand Up @@ -64,6 +64,15 @@ as well as a dedicated vocabulary derived from EFO terminology.

* for CNV queries use the EFO terms for relative copy number changes for either
`copyChange` or `variantType` parameters, depending on the Beacon version
* in Beacon v2+ the `copyChange` parameter MUST use a primaryCode representing one of:
- EFO:0030069: complete genomic loss
- EFO:0020073: high-level loss
- EFO:0030068: low-level loss
- EFO:0030067: loss
- EFO:0030064: regional base ploidy
- EFO:0030070: gain
- EFO:0030071: low-level gain
- EFO:0030072: high-level gain
* for other types of variations `variantType` according to query documentation and
emerging examples
* `variantType` might be replaced during future development
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2 changes: 1 addition & 1 deletion mkdocs.yaml
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Expand Up @@ -15,7 +15,7 @@ nav:
- Beacon v2 Query Solutions: generated/requestProfiles_g_variant
- Beacon v2+ Query Proposals: generated/requestProfiles_VQSrequest
- Parameter Definitions: generated/requestParameterComponents
- Query Types: query-types
# - Query Types: query-types
- Genomic Coordinates: genomic-coordinates-mappings
- Recommended Terms: terms-and-values
- Query Schema Source Files: https://github.com/ga4gh-beacon/variant-query-types/tree/main/schemas
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