clingen-data-model/clingen-data-model.github.io

Stars
1
Language
HTML
Created almost 8 years ago
Updated almost 6 years ago

clingen-data-model/clingen-data-model.github.io

clingen-data-model

There are no reviews yet. Be the first to send feedback to the community and the maintainers!

Website for data model documentation

allele

Documentation for data model of ClinGen

genegraph

Presents an RDF triplestore of gene information using GraphQL APIs

website-clinicalgenome-search

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.

clingen-interpretation

Allele (variant) interpretation model and API for ClinGen

community-curation

clingen-gene-tracker

Web based gene curation workflow tracking application

architecture

interpretation_json

Python library for creating JSON documents conforming to the DMWG interpretation model.

clinvar-api

Software for working with the ClinVar web API

allele-registry-use-cases

Description and support material for a global allele registry

genegraph-ui

User interface for Genegraph

clingen-hail-reports

Performs filtering against gnomAD and ClinVar datasets. Uses Hail to report records with a population FAF above certain thresholds by gene.

Jupyter Notebook

gene-lookup

serveur

expediter

Configuration and documentation of Kafka for data exchange

data-exchange-shared-json

JSON schema utilized to share data from the curation interfaces into the Data Exchange. CONTAINS GENE EXPRESS JSON DATA

cg-kb-init

Code for initializing Neo4j database backing cg-knowledgebase

gene-prioritization

Python script to generate gene prioritization Excel report for ClinGen curation

data-model-docs

Umbrella project for housing all of the various modeling work by the Data Modeling WG in ClinGen

gpm

ClinGen Expert Panel Management System

clingen-terms

OWL Ontology enumerating ClinGen application specific terms

hypothesis-funcexp-reformatting

Example code for processing Allele Functional Experimental evidence from annotations in hypothes.is

Jupyter Notebook

clinvar-streams

ld-context

Generator for JSON-LD Context files given OWL ontologies (plus some metadata)

garde-manger

Application for feeding data from various sources into the ClinGen Data Exchange

clojure-utility

Clojure Utility

clinvar-raw-producer

Pilot streaming service to share clinvar SCV data with VCI

clinvar-submitter

Application for transforming messages formatted according to the data model for ClinVar submission

persister

The persister project is an adaptable kafka topic consumer that persists all topic messages to a file system. The goal is to provide a means of auditing, troubleshooting, possible data sharing and a rough semblance of backup to the ClinGen data exchanges.

ep-management

VCI-transformation

Scripts for transforming VCI JSON-LD into DMWG Interpretation JSON-LD

common-user-experience

Capture documentation, artifacts, and code assets of the Common User Experience for ClinGen resources.

clinvar-ingest

clingen-schemas

Repositories holding schemas for data model entities within ClinGen

clinvar-ftp-watcher

Cloud Function for detecting new files on the clinvar ftp site