... | @@ -8,7 +8,7 @@ CSpec Registry Version 1.2.3 onwards will support [GitHub Flavored Markdown](htt |
... | @@ -8,7 +8,7 @@ CSpec Registry Version 1.2.3 onwards will support [GitHub Flavored Markdown](htt |
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- super and subscripts
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- super and subscripts
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- headings, etc.
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- headings, etc.
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Example of a criteria code specification text is given below:
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Example of a criteria code specification text is given below with inline citations:
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`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).`
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`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).`
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... | @@ -47,6 +47,75 @@ PAYLOAD - `{ |
... | @@ -47,6 +47,75 @@ PAYLOAD - `{ |
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}
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}
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}`
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}`
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### Additional examples
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Given below is an example of a criteria code specification text that has all the three namespaces - pmid, url and footnote
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**GET** - `https://genboree.org/cspec/CriteriaCode/id/1526042290?fields=entContent.strengthDescriptor[4].text`
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**PAYLOAD** - `{
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"data": {
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"entContent": {
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"strengthDescriptor": [
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null,
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null,
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null,
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null,
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{
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"text": "Award BP4 for a synonymous, intronic positions[<sup>4</sup>](#url_0b4709d0-66ed-5c02-b471-e65cb61cc189) (except canonical splice sites) or non-coding variants in the UTRs, if two out of three of the splicing prediction tools[<sup>1</sup>](#pmid_28825729) predicted no impact on splicing[<sup>5</sup>](#footnote_29e729be-5b0f-5d41-aee6-519557b48868) function."
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}
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]
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}
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},
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"metadata": {
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"rendered": {
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"by": "https://genboree.org/cspec/srvc",
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"when": "2022-08-30T21:13:26.179Z"
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}
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},
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"status": {
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"code": 200,
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"name": "OK"
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}
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}`
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1. `[<sup>4</sup>](#url_0b4709d0-66ed-5c02-b471-e65cb61cc189)`
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> uses the `url` namespace with the `id` 0b4709d0-66ed-5c02-b471-e65cb61cc189. This citation value can be obtained from the fourth(third index) reference in the list `entContent.references`
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> GET - `https://genboree.org/cspec/CriteriaCode/id/1526042290?fields=ldFor.RuleSet[0].entContent.references[3]`
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>
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> PAYLOAD - `{
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> "data": {
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> "ldFor": {
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> "RuleSet": [
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> {
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> "entContent": {
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> "references": [
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> null,
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> null,
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> null,
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> {
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> "id": "0b4709d0-66ed-5c02-b471-e65cb61cc189",
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> "namespace": "url",
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> "value": "https://clinicalgenome.org"
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> }
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> ]
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> }
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> }
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> ]
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> }
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> },
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> "metadata": {
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> "rendered": {
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> "by": "https://genboree.org/cspec/srvc",
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> "when": "2022-08-30T21:18:53.812Z"
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> }
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> },
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> "status": {
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> "code": 200,
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> "name": "OK"
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> }
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> }`
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#### Legacy specification documents.
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#### Legacy specification documents.
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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.
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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.
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