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Markdown and Citations · Changes

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Update Markdown and Citations authored Aug 14, 2022 by Neethu Shah's avatar Neethu Shah
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[[_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`
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