|
|
[[_TOC_]]
|
|
|
|
|
|
#### Markdown
|
|
|
CSpec Registry Version 1.2.3 onwards will support [GitHub Flavored Markdown](https://github.github.com/gfm/) for a criteria code specification. This will include the following in a specification text.
|
|
|
- bold
|
|
|
- italics
|
|
|
- indentation
|
|
|
- super and subscripts
|
|
|
- headings, etc.
|
|
|
|
|
|
Example of a criteria code specification text is given below:
|
|
|
|
|
|
`For synonymous[<sup>6</sup>](#url_97eb6585-3fe3-5b06-af5d-731078ed9b67), intronic positions (except canonical splice sites) and non-coding variants in the UTRs, if the nucleotide[<sup>1</sup>](#pmid_30771507) is non-conserved award this[<sup>2</sup>](#pmid_31418850) point (PhyloP score \\<0.1).`
|
|
|
|
|
|
#### References and inline citations
|
|
|
Three namespaces are currently supported, which includes:
|
|
|
1. pmid
|
|
|
2. footnote
|
|
|
3. url
|
|
|
|
|
|
A citation id within a specification text is defined as `#{namespace}_{id}`. For example an inline citation with the following identifier `#url_97eb6585-3fe3-5b06-af5d-731078ed9b67` has a corresponding reference item with the same `namespace` and `id` in the `ruleSet.entContent.references` subdocument.
|
|
|
|
|
|
For instance the following API request returns a reference item that corresponds to the citation id `#url_97eb6585-3fe3-5b06-af5d-731078ed9b67`.
|
|
|
GET - `https://genboree.org/cspec/RuleSet/id/1499617376?fields=entContent.references[5]`. Note: this API points to the test server.
|
|
|
|
|
|
PAYLOAD - `{
|
|
|
"data": {
|
|
|
"entContent": {
|
|
|
"references": [
|
|
|
{
|
|
|
"id": "97eb6585-3fe3-5b06-af5d-731078ed9b67",
|
|
|
"namespace": "url",
|
|
|
"value": "https://gnomad.broadinstitute.org/gene/ENSG00000075043?dataset=gnomad_r3"
|
|
|
}
|
|
|
]
|
|
|
}
|
|
|
},
|
|
|
"metadata": {
|
|
|
"rendered": {
|
|
|
"by": "https://genboree.org/cspec/srvc",
|
|
|
"when": "2022-08-09T00:38:02.237Z"
|
|
|
}
|
|
|
},
|
|
|
"status": {
|
|
|
"code": 200,
|
|
|
"name": "OK"
|
|
|
}
|
|
|
}`
|
|
|
|
|
|
#### Legacy specification documents.
|
|
|
As per the ClinGen Variant Curation Working Group recommendation a VCEP should be able to maintain and version specifications for a single gene separately. All specifications that are applicable for multiple genes are to be re-released into separate SVI documents.
|
|
|
|
|
|
A legacy document with multiple gene specifications will be fully archived when the attribute `legacyReplaced` is set to `true`. This property will be true only AFTER all the linked specification documents are re-released.
|
|
|
For example API to access a legacy document is given here. - `https://genboree.org/cspec/SequenceVariantInterpretation/id/GN023?fields=entContent.legacyReplaced`. All the corresponding individual, single gene specific documents can be accessed via - `https://genboree.org/cspec/SequenceVariantInterpretation/id/GN023?fields=ld.SequenceVariantInterpretation`. A superseded document fully replaces its legacy document only when the property `entContent.legacyFullySuperseded` is set to true. Identifiers for all the legacy documents in the Registry include - `GN014,GN016,GN004,GN005,GN011,GN018,GN023` |
|
|
\ No newline at end of file |