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mbaudis committed Mar 16, 2024
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19 changes: 13 additions & 6 deletions docs/query-types.md → docs/query-types/index.md
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Expand Up @@ -8,36 +8,43 @@ As part of the 2024 Beacon Variant Scouts we work on a revison and potential
extension of the available parameters, as well as on the definition of canonical
_Query Types_ tailored to the retrieval of defined [_Variant Types_](variant-types).

## _Sequence Queries_: `VariantSequenceRequest`[^1]
## Beacon v2 Default Model Queries

### _Sequence Queries_: `VariantSequenceRequest`[^1]

_Sequence Queries_ query for the existence of a specified sequence at a given genomic
position. Such queries roughly correspond to Beacon v1 queries and are used to match
short, precisely defined genomic variants such as SNVs, MNVs and INDELs.

## _Range Queries_: `VariantRangeRequest`[^1]
### _Range Queries_: `VariantRangeRequest`[^1]

Beacon _Range Queries_ are supposed to return matches of any variant with at least
partial overlap of the sequence range specified by `referenceName`, `start` and `end`
parameters.

## _Bracket Queries_ ("CNV queries"): `VariantBracketRequest`[^1]
### _Bracket Queries_ ("CNV queries"): `VariantBracketRequest`[^1]

_Bracket Queries_ allow the specification of sequence ranges for both start and end
positions of a genomic variation. The typical example here is the query for similar
structural variants - particularly CNVs - affecting a genomic region but potentially
differing in their exact extents.

## _GeneId Queries_: `GeneRequest`[^1]
### _GeneId Queries_: `GeneRequest`[^1]

_GeneId Queries_ are in essence a variation of _Range Queries_ in which the coordinates
are replaced by the [HGNC](https://www.genenames.org) gene symbol. It is left to the
implementation if the matching is done on variants annotated for the gene symbol or if
a positional translation is being applied.

## ==TBC==
### ==TBC==

## Query Type Proposals





[^1:] The names of the request type schemas should be considered "malleable".
[^1]: The names of the request type schemas should be considered "malleable".



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2 changes: 1 addition & 1 deletion mkdocs.yml
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Expand Up @@ -9,7 +9,7 @@ edit_uri: edit/main/docs/
###############################################################################

nav:
- 'Home': index
- 'Home': /
- Variation Types: variant-types
- Query Types: query-types
- Query Schema Source Files: https://github.com/ga4gh-beacon/variant-query-types/tree/main/schemas
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