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mbaudis committed Mar 18, 2024
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113 changes: 61 additions & 52 deletions docs/query-types/variantRequestParameters.md
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Expand Up @@ -5,15 +5,18 @@
The parameters currently implemented can be looked up in the Beacon v2
default model'e [`genomicVariations/requestParameters`](https://github.com/ga4gh-beacon/beacon-v2/blob/main/models/src/beacon-v2-default-model/genomicVariations/requestParameters.yaml).

Quoted text below reflects the v2 definitions, some of which might be subject
toc change (e.g. as result of the scouts' process).

## Beacon v2 Variant Request Parameters

### `assemblyId`

In the original Beacon v2 specification `assemblyId` parameter refers to the

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.
> 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.
#### Scouts TODO

Expand All @@ -27,17 +30,17 @@ In the original Beacon v2 specification `assemblyId` parameter refers to the

The `referenceName` parameter matches the

sequence id for genomic sequence (e.g. chromosome) in which variant coordinates
(`start`, `end` ...) are given. Preferably a RefSeqId or alternatively common
synonymus or aliases.
> sequence id for genomic sequence (e.g. chromosome) in which variant coordinates
> (`start`, `end` ...) are given. Preferably a RefSeqId or alternatively common
> synonymus or aliases.
#### Examples

- "refseq:NC_000009.12"
- NC_000009.12
- Chr9
- "9"
- NC_012920.1
- refseq:NC_000009.12
- NC_000009.12
- Chr9
- 9
- NC_012920.1

#### Scouts TODO

Expand All @@ -62,27 +65,27 @@ are many practical cases for translocation/fusion events).
Precise or fuzzy start coordinate position(s) for a variation locus (0-based, inclusive).
The use depends on the query type:

* `start` only:
- for single positions, e.g. the start of a specified sequence
alteration where the size is given through the specified `alternateBases`
- typical use are queries for SNV and small InDels
- the use of `start` without an `end` parameter requires the use of
`alternateBases`
* `start` and `end`:
- for searching any variant falling fully or partially within the range
between `start` and `end` (a.k.a. "range query")
- additional use of `variantType` OR `alternateBases` can limit the
scope of the query
- by convention, partial overlaps of variants with the indicated genomic
range are accepted; for specific overlap requirements the 4-parameter
"Bracket Queries" should be employed
* 2 values in both `start` and `end` for constructing a "Bracket Query":
- can be used to match any contiguous genomic interval, e.g. for querying
imprecise positions
- identifies all structural variants starting between `start[0]` and `start[1]`,
and ending between `end[0]` <-> `end[1]`
- single or double sided precise matches can be achieved by setting
`start[1]=start[0]+1` and `end[1]=end[0]+1`
> * `start` only:
> - for single positions, e.g. the start of a specified sequence
> alteration where the size is given through the specified `alternateBases`
> - typical use are queries for SNV and small InDels
> - the use of `start` without an `end` parameter requires the use of
> `alternateBases`
> * `start` and `end`:
> - for searching any variant falling fully or partially within the range
> between `start` and `end` (a.k.a. "range query")
> - additional use of `variantType` OR `alternateBases` can limit the
> scope of the query
> - by convention, partial overlaps of variants with the indicated genomic
> range are accepted; for specific overlap requirements the 4-parameter
> "Bracket Queries" should be employed
> * 2 values in both `start` and `end` for constructing a "Bracket Query":
> - can be used to match any contiguous genomic interval, e.g. for querying
> imprecise positions
> - identifies all structural variants starting between `start[0]` and `start[1]`,
> and ending between `end[0]` <-> `end[1]`
> - single or double sided precise matches can be achieved by setting
> `start[1]=start[0]+1` and `end[1]=end[0]+1`
#### Scouts TODO

Expand All @@ -94,17 +97,21 @@ Precise or fuzzy end coordinate position(s) for a variation locus (0-based, incl
This is commonly used for variations w/o specified sequence (although e.g. a range
and a sequence motif could be combined).

#### Scouts TODO

* as above

### `alternateBases`

Sequence of bases for this variation (starting from `start`).

* Accepted values: [ACGTN]
* N is a wildcard, that denotes the position of any base and can be used as
a standalone base of any type or within a partially known sequence. As example,
a query of `ANNT` the Ns can take take any form of [ACGT] and will match
`ANNT`, `ACNT`, `ACCT`, `ACGT` ... and so forth.
* an _empty value_ is used in the case of deletions with the maximally
trimmed, deleted sequence being indicated in `referenceBases`
> * Accepted values: [ACGTN]
> * N is a wildcard, that denotes the position of any base and can be used as
> a standalone base of any type or within a partially known sequence. As example,
> a query of `ANNT` the Ns can take take any form of [ACGT] and will match
> `ANNT`, `ACNT`, `ACCT`, `ACGT` ... and so forth.
> * an _empty value_ is used in the case of deletions with the maximally
> trimmed, deleted sequence being indicated in `referenceBases`
#### Scouts TODO

Expand All @@ -131,18 +138,20 @@ query type using non-sequence parameters (e.g. `aminoacidChange`).

The Beacon v2 schema uses some "VCF-like" examples w/o being prescriptive:

Examples here are e.g. structural variants:
* DUP
- increased allelic count of material from the genomic region between
`start` and `end` positions
- no assumption about the placement of the additional sequences is being
made (i.e. no _in situ_ requirement as tandem duplications)
* DEL: deletion of sequence following `start`
* BND: breakend, i.e. termination of the allele at position `start` or in
the `startMin` => `startMax` interval, or fusion of the sequence to distant
partner
Either `alternateBases` or `variantType` is required, with the exception
of range queries (single `start` and `end` parameters).
> Examples here are e.g. structural variants:
>
> * DUP
> - increased allelic count of material from the genomic region between
> `start` and `end` positions
> - no assumption about the placement of the additional sequences is being
> made (i.e. no _in situ_ requirement as tandem duplications)
> * DEL: deletion of sequence following `start`
> * BND: breakend, i.e. termination of the allele at position `start` or in
> the `startMin` => `startMax` interval, or fusion of the sequence to distant
> partner
>
> Either `alternateBases` or `variantType` is required, with the exception
> of range queries (single `start` and `end` parameters).
#### Scouts TODO

Expand All @@ -160,7 +169,7 @@ The Beacon v2 schema uses some "VCF-like" examples w/o being prescriptive:
that length based queries should also be supported for variants with indicated
eferenceBases and alternateBases, to enable length-specific wildcard queries.

#### Scouts TODO
#### Scouts TODO

* check definition

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2 changes: 1 addition & 1 deletion mkdocs.yml
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Expand Up @@ -12,7 +12,7 @@ schemas_path: /blob/main/schemas/
nav:
- 'Home': /
- Variation Types: variant-types
- Request PArameters: query-types/variantRequestParameters
- Request Parameters: query-types/variantRequestParameters
- Query Types: query-types
- Query Schema Source Files: https://github.com/ga4gh-beacon/variant-query-types/tree/main/schemas

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