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whitespace for Markdown line breaks
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mbaudis committed Feb 5, 2025
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78 changes: 39 additions & 39 deletions docs/generated/requestParameterComponents.md
Original file line number Diff line number Diff line change
Expand Up @@ -13,25 +13,25 @@ A GA4GH RefGet identifier for the __adjacent__ sequence in adjacency/fusion scen

#### description
Start position or range (_i.e._ in case of a fuzzy breakpoint) on an adjacent sequence in case of a sequence adjecency Status: PROPOSED FOR BEACON v2.n, based on VRS v2 with modification
**oneOf:**
* `integer`
**oneOf:**
* `integer `
* `{'$ref': '#/$defs/Range'}`

### `AdjacencyEnd`

#### description
End position or range (_i.e._ in case of a fuzzy breakpoint) on an adjacent sequence in case of a sequence adjecency Status: PROPOSED FOR BEACON v2.n, based on VRS v2 with modification
**oneOf:**
* `integer`
**oneOf:**
* `integer `
* `{'$ref': '#/$defs/Range'}`

### `AminoacidChange`

#### description
Aminoacid alteration of interest. Format 1 letter Origin: Beacon v2.0
**type:** `string`
**examples:**
* `V600E`
**examples:**
* `V600E `
* `M734V`

### `CopyChange`
Expand All @@ -57,14 +57,14 @@ MUST use a primaryCode representing one of:
```
Origin: Beacon v2.n, based on VRS v1.3+
**type:** `string`
**enum:**
* `EFO:0030069`
* `EFO:0020073`
* `EFO:0030068`
* `EFO:0030067`
* `EFO:0030064`
* `EFO:0030070`
* `EFO:0030071`
**enum:**
* `EFO:0030069 `
* `EFO:0020073 `
* `EFO:0030068 `
* `EFO:0030067 `
* `EFO:0030064 `
* `EFO:0030070 `
* `EFO:0030071 `
* `EFO:0030072`

### `GeneId`
Expand All @@ -76,16 +76,16 @@ Origin: Beacon v2.n, based on VRS v1.3+
the HGNC (https://www.genenames.org) nomenclature.
Origin: Beacon v2.0
**type:** `string`
**examples:**
* `BRAF`
**examples:**
* `BRAF `
* `SCN5A`

### `GenomicAlleleShortForm`

#### description
HGVSId descriptor Origin: Beacon v2.0
**type:** `string`
**examples:**
**examples:**
* `NM_004006.2:c.4375C>T`

### `Range`
Expand All @@ -104,16 +104,16 @@ An array of 2 integer values. If referring to sequence positions the "0-based, i
#### description
A GA4GH RefGet identifier for the reference sequence, _i.e._ either a computed GA4GH checksum or other unique namespaced identifier supported by the server. It replaces the `referenceName` and `assemblyId` parameters according to the VRS v2 definition. Origin: VRS v2 Reference: [GA4GH RefGet](http://samtools.github.io/hts-specs/refget.html)
**type:** `string`
**examples:**
* `refseq:NC_000009.12`
**examples:**
* `refseq:NC_000009.12 `
* `ga4gh:SQ.S_KjnFVz-FE7M0W6yoaUDgYxLPc1jyWU`

### `RepeatSubunitLength`

#### description
The number of residues in a repeat subunit. In contrast to the VRS model we allow for range queries (e.g. all repeats with subunits of 1 or 2). Origin: VRS v2
**oneOf:**
* `integer`
**oneOf:**
* `integer `
* `{'$ref': '#/$defs/Range'}`

### `RequestProfileId`
Expand All @@ -139,24 +139,24 @@ Origin: VRS v1.n TODO: Review use of base characters.

#### description
The sequence length when querying the conceptual representation of a sequence according to a VRS `ReferenceLengthExpression` class. Origin: VRS v2
**oneOf:**
* `integer`
**oneOf:**
* `integer `
* `{'$ref': '#/$defs/Range'}`

### `SequenceStart`

#### description
Start position or range (_i.e._ in case of a fuzzy breakpoint) on a sequence. Status: PROPOSED FOR BEACON v2.n, based on VRS v2 with modification
**oneOf:**
* `integer`
**oneOf:**
* `integer `
* `{'$ref': '#/$defs/Range'}`

### `SequenceEnd`

#### description
End position or range (_i.e._ in case of a fuzzy breakpoint) on a sequence. Status: PROPOSED FOR BEACON v2.n, based on VRS v2 with modification
**oneOf:**
* `integer`
**oneOf:**
* `integer `
* `{'$ref': '#/$defs/Range'}`

### `VariantId`
Expand All @@ -171,8 +171,8 @@ End position or range (_i.e._ in case of a fuzzy breakpoint) on a sequence. Stat
identifiers as well.
Status: PROPOSED FOR BEACON v2.n
**type:** `string`
**examples:**
* `ClinGen:CA152954`
**examples:**
* `ClinGen:CA152954 `
* `dbSNP:rs587780345`

### `VariantMinLength`
Expand Down Expand Up @@ -210,19 +210,19 @@ Origin: Beacon v2.0
#### description
Genomic assembly accession and version as RefSqeq assembly accession (e.g. "GCF_000001405.39") or a versioned assembly name or synonym such as UCSC Genome Browser assembly (e.g. "hg38") or Genome Reference Consortium Human (e.g. "GRCh38.p13") names. DEPRECATION NOTE: The use of a assembly specific sequence identifier obviates this parameter. Not part of VRS v2 aligned model versions.
**type:** `string`
**example:**
* `GCF_000001405.39`
* `hg38`
**example:**
* `GCF_000001405.39 `
* `hg38 `
* `GRCh38.p13`

### `RefSeqId`

#### description
Reference sequence id for genomic reference sequence in which variant coordinates are given, e.g. "refseq:NC_000009.12" for human chromosome 9 in the GRCh38 assembly. The use of the assembly specific RefSeqId is recommended although alternatively names, synonymous or aliases e.g. "chr9" could be used in conjunction with an `Assembly` parameter. DEPRECATION NOTE: To be replaced with the `RefgetAccession` from VRS v2.
**type:** `string`
**example:**
* `refseq:NC_000009.12`
* `chr9`
**example:**
* `refseq:NC_000009.12 `
* `chr9 `
* `NC_012920.1`

### `ReferenceBases`
Expand Down Expand Up @@ -252,10 +252,10 @@ The `variantType` is used to query variants which are not defined through a sequ
concepts so far have not been covered and might warrant use of an
additional parameter (`variantClass`?).
**type:** `string`
**examples:**
* `EFO:0030070`
* `DUP`
* `DEL`
**examples:**
* `EFO:0030070 `
* `DUP `
* `DEL `
* `EFO:0030069`

### `Start`
Expand Down
40 changes: 20 additions & 20 deletions docs/generated/requestProfiles.md
Original file line number Diff line number Diff line change
Expand Up @@ -55,9 +55,9 @@ This represents the generic collection of variant parameters supported in Beacon
- `start`: `'$ref': './common/requestParameterComponents.yaml#/$defs/Start'`
- `referenceBases`: `'$ref': './common/requestParameterComponents.yaml#/$defs/ReferenceBases'`
- `alternateBases`: `'$ref': './common/requestParameterComponents.yaml#/$defs/AlternateBases'`
**required:**
* `referenceName`
* `start`
**required:**
* `referenceName `
* `start `
* `alternateBases`

### `BV2bracketRequest`
Expand All @@ -74,10 +74,10 @@ A typical Beacon v2 request for matching variations where start and end fall in
- `variantType`: `'$ref': './common/requestParameterComponents.yaml#/$defs/VariantType'`
- `variantMinLength`: `'$ref': './common/requestParameterComponents.yaml#/$defs/VariantMinLength'`
- `variantMaxLength`: `'$ref': './common/requestParameterComponents.yaml#/$defs/VariantMaxLength'`
**required:**
* `referenceName`
* `start`
* `end`
**required:**
* `referenceName `
* `start `
* `end `
* `variantType`

### `BV2rangeRequest`
Expand All @@ -94,9 +94,9 @@ Beacon Range Queries are supposed to return matches of any variant with at least
- `variantType`: `'$ref': './common/requestParameterComponents.yaml#/$defs/VariantType'`
- `variantMinLength`: `'$ref': './common/requestParameterComponents.yaml#/$defs/VariantMinLength'`
- `variantMaxLength`: `'$ref': './common/requestParameterComponents.yaml#/$defs/VariantMaxLength'`
**required:**
* `referenceName`
* `start`
**required:**
* `referenceName `
* `start `
* `end`

### `BV2variantIdRequest`
Expand All @@ -111,7 +111,7 @@ Beacon Range Queries are supposed to return matches of any variant with at least
- `requestProfileId`: `'const': 'BV2aminoacidChangeRequest'`
- `aminoacidChange`: `'$ref': './common/requestParameterComponents.yaml#/$defs/AminoacidChange'`
- `geneId`: `'$ref': './common/requestParameterComponents.yaml#/$defs/GeneId'`
**required:**
**required:**
* `aminoacidChange`

### `BV2genomicAlleleShortFormRequest`
Expand All @@ -131,7 +131,7 @@ A typical Beacon v2.n request for gene queries, e.g. for the retrieval of all va
- `variantType`: `'$ref': './common/requestParameterComponents.yaml#/$defs/VariantType'`
- `variantMinLength`: `'$ref': './common/requestParameterComponents.yaml#/$defs/VariantMinLength'`
- `variantMaxLength`: `'$ref': './common/requestParameterComponents.yaml#/$defs/VariantMaxLength'`
**required:**
**required:**
* `geneId`

### `VQSsequenceRequest`
Expand All @@ -142,9 +142,9 @@ A typical Beacon v2.n request for gene queries, e.g. for the retrieval of all va
- `start`: `'$ref': './common/requestParameterComponents.yaml#/$defs/SequenceStart'`
- `end`: `'$ref': './common/requestParameterComponents.yaml#/$defs/SequenceEnd'`
- `sequence`: `'$ref': './common/requestParameterComponents.yaml#/$defs/Sequence'`
**required:**
* `referenceAccession`
* `start`
**required:**
* `referenceAccession `
* `start `
* `sequence`

### `VQScopyChangeRequest`
Expand All @@ -160,10 +160,10 @@ A typical Beacon v2.n request for copy number variations (CNVs) queries approxim
- `copyChange`: `'$ref': './common/requestParameterComponents.yaml#/$defs/CopyChange'`
- `variantMinLength`: `'$ref': './common/requestParameterComponents.yaml#/$defs/VariantMinLength'`
- `variantMaxLength`: `'$ref': './common/requestParameterComponents.yaml#/$defs/VariantMaxLength'`
**required:**
* `referenceAccession`
* `start`
* `end`
**required:**
* `referenceAccession `
* `start `
* `end `
* `copyChange`

### `VQSadjacencyRequest`
Expand Down Expand Up @@ -194,7 +194,7 @@ A typical Beacon v2.n request for gene queries, e.g. for the retrieval of all va
- `variantMaxLength`: `'$ref': './common/requestParameterComponents.yaml#/$defs/VariantMaxLength'`
- `molecularEffect`: `'$ref': './common/requestParameterComponents.yaml#/$defs/molecularEffect'`
- `clinicalRelevance`: `'$ref': './common/requestParameterComponents.yaml#/$defs/clinicalRelevance'`
**required:**
**required:**
* `geneId`

### `BV2multivarsRequest`
Expand Down
8 changes: 4 additions & 4 deletions docs/generated/requestProfiles_BV2bracketRequest.md
Original file line number Diff line number Diff line change
Expand Up @@ -8,10 +8,10 @@ Here sequence variants (insertions or deletions) involving a specific region on
### Request
**assemblyId:** `GRCh38`
**referenceName:** `17`
**start:**
* `43045703`
**start:**
* `43045703 `
* `43045709`
**end:**
* `43045715`
**end:**
* `43045715 `
* `43045720`
**variantType:** `INDEL`
12 changes: 6 additions & 6 deletions docs/generated/requestProfiles_BV2rangeRequest.md
Original file line number Diff line number Diff line change
Expand Up @@ -9,9 +9,9 @@ CAVE: Since no variant type is indicated such a query can potentially match a la
### Request
**assemblyId:** `GRCh38`
**referenceName:** `17`
**start:**
**start:**
* `345675`
**end:**
**end:**
* `345681`


Expand All @@ -20,9 +20,9 @@ CAVE: Since no variant type is indicated such a query can potentially match a la
Query for a deletion involving TP53 using the maximum extent of the gene's coding region (known from somewhere...). The deletion to be found are expected to have an overlap with the queried range; however, the extent of the overlap is not pre-defined (most endpoints woul respond to a **recommended** "any" overlap but this is not a strict requirement imposed by the schema). Here positions refer to chromosome 17 on GRCh38 as indicated by the referenceName RefSeq ID.
### Request
**referenceName:** `refseq:NC_0000017.11`
**start:**
**start:**
* `7669608`
**end:**
**end:**
* `7676593`
**variantType:** `DEL`

Expand All @@ -33,8 +33,8 @@ For this query the mapping position of TP53 (17:7669607-7676593) has to be known
The "insertion" type is here provided through the Sequence Ontology term `SO:0000667` and for the chromosome the full, prefixed RefSeq term is being used.
### Request
**referenceName:** `refseq:NC_0000017.11`
**start:**
**start:**
* `7664000`
**end:**
**end:**
* `7682000`
**variantType:** `SO:0000667`
20 changes: 10 additions & 10 deletions docs/generated/requestProfiles_g_variant.md
Original file line number Diff line number Diff line change
Expand Up @@ -8,11 +8,11 @@ Here sequence variants (insertions or deletions) involving a specific region on
### Request
**assemblyId:** `GRCh38`
**referenceName:** `17`
**start:**
* `43045703`
**start:**
* `43045703 `
* `43045709`
**end:**
* `43045715`
**end:**
* `43045715 `
* `43045720`
**variantType:** `INDEL`

Expand All @@ -24,9 +24,9 @@ CAVE: Since no variant type is indicated such a query can potentially match a la
### Request
**assemblyId:** `GRCh38`
**referenceName:** `17`
**start:**
**start:**
* `345675`
**end:**
**end:**
* `345681`


Expand All @@ -35,9 +35,9 @@ CAVE: Since no variant type is indicated such a query can potentially match a la
Query for a deletion involving TP53 using the maximum extent of the gene's coding region (known from somewhere...). The deletion to be found are expected to have an overlap with the queried range; however, the extent of the overlap is not pre-defined (most endpoints woul respond to a **recommended** "any" overlap but this is not a strict requirement imposed by the schema). Here positions refer to chromosome 17 on GRCh38 as indicated by the referenceName RefSeq ID.
### Request
**referenceName:** `refseq:NC_0000017.11`
**start:**
**start:**
* `7669608`
**end:**
**end:**
* `7676593`
**variantType:** `DEL`

Expand All @@ -48,9 +48,9 @@ For this query the mapping position of TP53 (17:7669607-7676593) has to be known
The "insertion" type is here provided through the Sequence Ontology term `SO:0000667` and for the chromosome the full, prefixed RefSeq term is being used.
### Request
**referenceName:** `refseq:NC_0000017.11`
**start:**
**start:**
* `7664000`
**end:**
**end:**
* `7682000`
**variantType:** `SO:0000667`

Expand Down
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