Global Alliance for Genomics and Health
We develop genomics tools to benefit human health
We develop genomics tools to benefit human health
The Global Alliance for Genomics and Health (GA4GH) was formed to help accelerate the potential of genomic medicine to advance human health. It brings together over 400 leading genome institutes and centers with IT industry leaders to create global standards and tools for the secure, privacy respecting and interoperable sharing of Genomic data.
2023 Program
Successful Projects
Contributor
Arrax
Mentor
Rohan Gupta, Bob Dolin, Srikar Chamala, Mihai Todor
Organization
Global Alliance for Genomics and Health
GA4GH-FHIR Molecular Consequence Harmonization
The Proposal is how to make updates in the reference implementation based on the harmonization work, the creation of the new FHIR profile, and the...
Contributor
Assel Abzalova
Mentor
Salihu, Anurag Gupta, Alex Kanitz, denis.yuen, Liam Beckman, Charles Overbeck
Organization
Global Alliance for Genomics and Health
Web Components for discovering and using scientific software in the Cloud
The Global Alliance for Genomics and Health (GA4GH) defines the Tool Registry Service (TRS) specification for the discovering and accessing research...
Contributor
Javed Habib
Mentor
Salihu, Anurag Gupta, Alex Kanitz, Liam Beckman, Venkat Malladi, patmagee
Organization
Global Alliance for Genomics and Health
Dashboard Web Components (React, Vue etc) for Workflow and Task Runs
The objective of this project is to create adaptable web components using UI frameworks like Microsoft's Fast. This will involve expanding the...
Contributor
Haroune Hassine
Mentor
TImothe Cezard, April Shen
Organization
Global Alliance for Genomics and Health
Implementation of the Sequence collection specification using the EVA contig alias backend
This project aims at implementing the Sequence Collection specification designed by the Global Alliance for Genomics and Health (GA4GH). The main...
Contributor
Justin Aronson
Mentor
Bob Dolin, Srikar Chamala
Organization
Global Alliance for Genomics and Health
Implementing Phenopackets in a Variant Discovery Pipeline
Variant filtration is key to rare disease discovery. For a rare disease discovery app to be successful, it must be able to cleanly represent the...
Contributor
Samriddhi Singh
Mentor
Alan Rubin, Alex H. Wagner, PhD
Organization
Global Alliance for Genomics and Health
Creating a reproducible VRS mapping and validation library for MaveDB
The aim of this project is to make it easier to use MaveDB datasets for clinical use, as most of the MaveDB datasets are not annotated in a way that...
Contributor
Lakshya Garg
Mentor
Alex Kanitz, Liam Beckman, Venkat Malladi, Kushagra Nagori, Chen Chen, patmagee
Organization
Global Alliance for Genomics and Health
Common compliance testing framework for every OpenAPI specification
An interoperable automated framework for compliance testing has been developed, equipped with the capability to execute customizable test files. The...