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    93 repositories

    • clinvar-ingest-bq-tools

      Public
      ClinVar ingest BiqQuery tools
      TypeScript
      •
      Creative Commons Zero v1.0 Universal
      •0•0•0•0•Updated Dec 24, 2024Dec 24, 2024

    • clinvar-ingest

      Public
      Python
      •
      Apache License 2.0
      •0•2•30•1•Updated Dec 19, 2024Dec 19, 2024

    • clinvar-curation-input-tool

      Public
      Chrome extension to allow curators to capture SCV data to a google sheet directly from clinvar website.
      JavaScript
      •
      Creative Commons Zero v1.0 Universal
      •0•0•4•0•Updated Dec 19, 2024Dec 19, 2024

    • gpm

      Public
      ClinGen Expert Panel Management System
      PHP
      •1•2•2•16•Updated Dec 19, 2024Dec 19, 2024

    • genegraph-frontend

      Public
      Frontend for genegraph-api
      Clojure
      •0•0•0•0•Updated Dec 18, 2024Dec 18, 2024

    • genegraph-snapshot

      Public
      Snapshot generator leveraging Genegraph
      Clojure
      •
      MIT License
      •0•0•1•0•Updated Dec 17, 2024Dec 17, 2024

    • website-clinicalgenome-search

      Public
      SEARCH V4 :: The aim of the project is to integrate ClinGen's internal data services and public external data services around a common user experience to ensure clinically relevant knowledge about genes and variants is available for use in precision medicine and research.
      phplaravelcomposervariantsgenes
      PHP
      •3•4•0•20•Updated Dec 13, 2024Dec 13, 2024

    • genegraph-api

      Public
      GraphQL API representation of Genegraph managed data
      Clojure
      •
      MIT License
      •0•0•1•0•Updated Dec 9, 2024Dec 9, 2024

    • cgwi-php-helm

      Public
      Helm chart for ClinGen Workflow Infrastructure php apps
      Smarty
      •0•0•1•0•Updated Dec 5, 2024Dec 5, 2024

    • architecture

      Public
      HCL
      •0•2•22•4•Updated Nov 29, 2024Nov 29, 2024

    • clingen-gene-tracker

      Public
      Web based gene curation workflow tracking application
      PHP
      •1•3•12•20•Updated Nov 21, 2024Nov 21, 2024

    • genegraph-framework

      Public
      Framework for stream based processing of events, with public API access built in
      Clojure
      •
      MIT License
      •0•0•3•0•Updated Nov 21, 2024Nov 21, 2024

    • clinvar-ftp-watcher

      Public
      Cloud Function for detecting new files on the clinvar ftp site
      Clojure
      •0•1•0•0•Updated Nov 19, 2024Nov 19, 2024

    • cgwi-php

      Public
      ClinGen Workflow Infrastructure base PHP images
      Dockerfile
      •
      MIT License
      •0•0•2•0•Updated Nov 17, 2024Nov 17, 2024

    • genegraph-gene-validity

      Public
      Representation of ClinGen Gene Validity data using Genegraph
      Clojure
      •
      MIT License
      •0•0•1•0•Updated Nov 14, 2024Nov 14, 2024

    • anyvar

      Public
      [in development] Proof-of-Concept variation translation, validation, and registration service
      Python
      •
      Apache License 2.0
      •6•0•0•0•Updated Nov 8, 2024Nov 8, 2024

    • gks-metaschema

      Public
      Tools and scripts for parsing the GKS standards metaschemas
      Python
      •
      Apache License 2.0
      •3•0•0•0•Updated Nov 7, 2024Nov 7, 2024

    • vrs

      Public
      Extensible specification for representing and uniquely identifying biological sequence variation
      Jupyter Notebook
      •
      Apache License 2.0
      •34•0•0•0•Updated Nov 4, 2024Nov 4, 2024

    • clinvar-gk-python

      Public
      Project for reading and normalizing ClinVar variants into GA4GH GKS forms
      Jupyter Notebook
      •
      MIT License
      •0•0•3•0•Updated Nov 4, 2024Nov 4, 2024

    • data-exchange-shared-json

      Public
      JSON schema utilized to share data from the curation interfaces into the Data Exchange. CONTAINS GENE EXPRESS JSON DATA
      0•1•2•0•Updated Oct 30, 2024Oct 30, 2024

    • community-curation

      Public
      PHP
      •0•3•0•10•Updated Oct 4, 2024Oct 4, 2024

    • jira-reader

      Public
      Application for reading updates to JIRA projects and writing the output to Kafka topics.
      Clojure
      •
      Eclipse Public License 2.0
      •0•0•1•0•Updated Sep 27, 2024Sep 27, 2024

    • genegraph-gene-validity-sepio

      Public
      Transform and publish the Gene Validity SEPIO model to the data exchange and storage
      Clojure
      •
      MIT License
      •0•0•4•0•Updated Sep 23, 2024Sep 23, 2024

    • SEPIO-ontology

      Public
      Ontology for representing scientific evidence and provenance information
      11•1•0•0•Updated Sep 23, 2024Sep 23, 2024

    • genegraph-docs

      Public
      Public documentation for Genegraph Gene Validity data formats
      MIT License
      •0•0•1•0•Updated Jul 29, 2024Jul 29, 2024

    • clinvar-ingest-reports

      Public
      ClinGen generates several google sheet based reports from the ClinVar ingested data that originates from the Broad BigQuery data.
      Python
      •0•0•21•0•Updated Jul 19, 2024Jul 19, 2024

    • vcep-tracker-generator

      Public
      This repository contains projects for the auto-generation of VCEP Tracker reports.
      Python
      •
      Apache License 2.0
      •0•0•1•0•Updated Jul 19, 2024Jul 19, 2024

    • clinvar-gks

      Public
      dataform project with pipelines to transform clinvar to gks standards
      MIT License
      •0•0•0•0•Updated Jun 10, 2024Jun 10, 2024

    • genegraph-base

      Public
      App for downloading supporting data files for Genegraph apps and advertising their availability on the Data Exchange.
      MIT License
      •0•0•0•0•Updated Jun 4, 2024Jun 4, 2024

    • kafka-topic-appender

      Public
      Application for copying events from one Kafka topic to another.
      Clojure
      •
      MIT License
      •0•0•0•0•Updated Jun 3, 2024Jun 3, 2024