• Stars
    star
    1
  • Language
  • Created about 6 years ago
  • Updated almost 4 years ago

Reviews

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

Repository Details

OWL Ontology enumerating ClinGen application specific terms

More Repositories

1

allele

Documentation for data model of ClinGen
Java
10
star
2

genegraph

Presents an RDF triplestore of gene information using GraphQL APIs
Clojure
5
star
3

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.
PHP
4
star
4

clingen-interpretation

Allele (variant) interpretation model and API for ClinGen
HTML
3
star
5

community-curation

PHP
3
star
6

clingen-gene-tracker

Web based gene curation workflow tracking application
PHP
3
star
7

architecture

HCL
2
star
8

interpretation_json

Python library for creating JSON documents conforming to the DMWG interpretation model.
Python
2
star
9

clinvar-api

Software for working with the ClinVar web API
Python
2
star
10

allele-registry-use-cases

Description and support material for a global allele registry
2
star
11

genegraph-ui

User interface for Genegraph
Clojure
1
star
12

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
1
star
13

gene-lookup

PHP
1
star
14

serveur

Clojure
1
star
15

expediter

Configuration and documentation of Kafka for data exchange
HTML
1
star
16

data-exchange-shared-json

JSON schema utilized to share data from the curation interfaces into the Data Exchange. CONTAINS GENE EXPRESS JSON DATA
1
star
17

cg-kb-init

Code for initializing Neo4j database backing cg-knowledgebase
Clojure
1
star
18

gene-prioritization

Python script to generate gene prioritization Excel report for ClinGen curation
Python
1
star
19

data-model-docs

Umbrella project for housing all of the various modeling work by the Data Modeling WG in ClinGen
JavaScript
1
star
20

gpm

ClinGen Expert Panel Management System
PHP
1
star
21

hypothesis-funcexp-reformatting

Example code for processing Allele Functional Experimental evidence from annotations in hypothes.is
Jupyter Notebook
1
star
22

clinvar-streams

Clojure
1
star
23

ld-context

Generator for JSON-LD Context files given OWL ontologies (plus some metadata)
Clojure
1
star
24

clingen-data-model.github.io

Website for data model documentation
HTML
1
star
25

garde-manger

Application for feeding data from various sources into the ClinGen Data Exchange
Clojure
1
star
26

clojure-utility

Clojure Utility
Clojure
1
star
27

clinvar-raw-producer

Pilot streaming service to share clinvar SCV data with VCI
Clojure
1
star
28

clinvar-submitter

Application for transforming messages formatted according to the data model for ClinVar submission
Clojure
1
star
29

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.
Clojure
1
star
30

ep-management

Python
1
star
31

VCI-transformation

Scripts for transforming VCI JSON-LD into DMWG Interpretation JSON-LD
Python
1
star
32

common-user-experience

Capture documentation, artifacts, and code assets of the Common User Experience for ClinGen resources.
1
star
33

clinvar-ingest

Python
1
star
34

clingen-schemas

Repositories holding schemas for data model entities within ClinGen
1
star
35

clinvar-ftp-watcher

Cloud Function for detecting new files on the clinvar ftp site
Clojure
1
star