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some content transfer from Beacon v2 documentation
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mbaudis committed Mar 14, 2024
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4 changes: 3 additions & 1 deletion mkdocs.yml
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nav:
- 'Home': index.md
- Variation Types: variant-types.md
- Query Types: query-types.md
- Query Schema Source Files: https://github.com/ga4gh-beacon/variant-query-types/tree/main/schemas

###############################################################################
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- navigation.instant
- navigation.tracking
- navigation.sections
- toc.integrate
# - toc.integrate

plugins:
- search
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36 changes: 36 additions & 0 deletions query-types.md
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# Query Types

## _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]

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_ 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_ 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==


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




1 change: 1 addition & 0 deletions schemas/variantRequestParameters.yaml
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documents against a variation entity.
TODO: Variant Scouts => revise (e.g. name & PascalCasing of definitions ...)
type: object

definitions:
assemblyId:
description: >-
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1 change: 1 addition & 0 deletions variant-types.md
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# Variant Types

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