Skip to content

Commit

Permalink
New prefix: clingen.curation (#1414)
Browse files Browse the repository at this point in the history
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]>
  • Loading branch information
nagutm and bgyori authored Feb 19, 2025
1 parent 708370a commit 09f10af
Showing 1 changed file with 26 additions and 3 deletions.
29 changes: 26 additions & 3 deletions src/bioregistry/data/bioregistry.json
Original file line number Diff line number Diff line change
Expand Up @@ -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": {
Expand All @@ -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": [
Expand All @@ -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"
Expand Down

0 comments on commit 09f10af

Please sign in to comment.