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New prefix: clingen.curation (#1414)
This pull request addresses part of #1403 It curates `clingen.curation` which provides identifiers for curations based on evidence and expert panel assertions. --------- Co-authored-by: Ben Gyori <[email protected]>
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@@ -17778,11 +17778,11 @@ | |
"name": "Charles Tapley Hoyt", | ||
"orcid": "0000-0003-4423-4370" | ||
}, | ||
"description": "identifier for a panel", | ||
"description": "ClinGen is a National Institutes of Health (NIH)-funded resource that defines the clinical relevance of genes and variants for use in precision medicine and research. This prefix provides identifiers for a panel of experts performing variant pathogenecity evaluation.", | ||
"example": "40135", | ||
"github_request_issue": 1314, | ||
"homepage": "https://clinicalgenome.org/affiliation", | ||
"name": "Clinical Genome Resource Panel", | ||
"name": "ClinGen Clinical Genome Expert Panel", | ||
"uri_format": "https://clinicalgenome.org/affiliation/$1/" | ||
}, | ||
"clingen.allele": { | ||
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@@ -17805,7 +17805,7 @@ | |
"orcid": "0000-0002-8719-7760" | ||
} | ||
], | ||
"description": "The allele registry provides and maintains identifiers for genetic variants", | ||
"description": "ClinGen is a National Institutes of Health (NIH)-funded resource that defines the clinical relevance of genes and variants for use in precision medicine and research. This prefix provides and maintains identifiers for alleles.", | ||
"example": "CA981206459", | ||
"homepage": "https://reg.clinicalgenome.org", | ||
"keywords": [ | ||
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@@ -17827,6 +17827,29 @@ | |
], | ||
"uri_format": "https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=$1" | ||
}, | ||
"clingen.curation": { | ||
"banana": "CCID", | ||
"banana_peel": ":", | ||
"contributor": { | ||
"email": "[email protected]", | ||
"github": "nagutm", | ||
"name": "Mufaddal Naguthanawala", | ||
"orcid": "0009-0009-5240-7463" | ||
}, | ||
"description": "ClinGen is a National Institutes of Health (NIH)-funded resource that defines the clinical relevance of genes and variants for use in precision medicine and research. This prefix provides identifiers for curations representing evidence aggregation and expert panel assertions based on standardized evaluation procedures", | ||
"example": "004126", | ||
"github_request_issue": 1414, | ||
"homepage": "https://search.clinicalgenome.org/kb/gene-validity", | ||
"name": "ClinGen Curation", | ||
"pattern": "^\\d{6}$", | ||
"reviewer": { | ||
"email": "[email protected]", | ||
"github": "bgyori", | ||
"name": "Benjamin M. Gyori", | ||
"orcid": "0000-0001-9439-5346" | ||
}, | ||
"uri_format": "https://search.clinicalgenome.org/CCID:$1" | ||
}, | ||
"clinicaltrials": { | ||
"biocontext": { | ||
"prefix": "CLINICALTRIALS" | ||
|