Name: ClinGen Website & Data Service
Type: Organization
Bio: The ClinGen artifacts developed and maintained by the Broad/Geisinger team with contributions from UNC, Stanford, Baylor and Monarch.
Location: United States of America
Blog: https://www.clinicalgenome.org/working-groups/data-model/
ClinGen Website & Data Service's Projects
Documentation for data model of ClinGen
Description and support material for a global allele registry
[in development] Proof-of-Concept variation translation, validation, and registration service
PHP docker image configuration
The REPO is intended to serve limited amounts of content related to HTML emails and/or other materials need to be managed by ClinGen
Code for initializing Neo4j database backing cg-knowledgebase
ClinGen Workflow Infrastructure base PHP images
Helm chart for ClinGen Workflow Infrastructure php apps
Website for data model documentation
Web based gene curation workflow tracking application
Performs filtering against gnomAD and ClinVar datasets. Uses Hail to report records with a population FAF above certain thresholds by gene.
Allele (variant) interpretation model and API for ClinGen
Repositories holding schemas for data model entities within ClinGen
OWL Ontology enumerating ClinGen application specific terms
Track Hub to incorporate ClinGen Gene-Disease Pathogenicity into the UCSC Genome Browser
Software for working with the ClinVar web API
Chrome extension to allow curators to capture SCV data to a google sheet directly from clinvar website.
@todo @Danielle
Python script to generate ClinGen Expert Panel Excel reports from ClinVar FTP files.
Cloud Function for detecting new files on the clinvar ftp site
Project for reading and normalizing ClinVar variants into GA4GH GKS forms
dataform project with pipelines to transform clinvar to gks standards
ClinVar ingest BiqQuery tools
ClinGen generates several google sheet based reports from the ClinVar ingested data that originates from the Broad BigQuery data.
Pilot streaming service to share clinvar SCV data with VCI