Work Products & Demonstration Projects

GA Demonstration Projects show the value of data sharingThe Global Alliance for Genomics and Health aims to deliver tangible, innovative, and actionable work products that improve and impact the field of genomic medicine and advance human health. Work Products are put to use in Demonstration Projects, which seek to solve particular needs within the community while also illustrating the value of GA4GH efforts. Together, Work Products and Demonstration Projects serve to facilitate the use of interoperable technical standards for managing and sharing genomic and clinical data, to develop guidelines and harmonize procedures for privacy and ethics, and to encourage responsible and voluntary sharing of data.

Our Work Products

Select a Working Group item to view the associated Work Products:

Clinical Work Products (5) Open for submissions (4)

Data Work Products (5)

  • File Formats: CRAM

    CRAMTools is a set of Java tools and APIs for efficient compression of sequence read data.

  • File Formats: SAM/BAM

    Tools (written in C using htslib) for manipulating next-generation sequencing data.

  • File Formats: VCF/BCF

    Utilities for variant calling and manipulating Variant Call Format Files (VCF) and its binary counterpart BCF.

  • Genomics API

    The Genomics API developed by the Global Alliance enables DNA data providers and consumers to better share information and work together on a global scale, advancing genome research and clinical application.

  • Metadata: Specification

    The mission of the Metadata Task Team is to build a sample metadata schema that is shared by all data models and used across all GA4GH Working Groups.

Regulatory and Ethics Work Products (11)

  • Accountability Policy

    Best practices for monitoring and responding to non-compliance with data sharing standards, and for enhancing the transparency and accountability of specific stakeholder groups.

  • Automatable Discovery and Access Matrix

    The overarching goal is for Machine readable structure(s) to increasingly automate discovery and sharing of data.

  • Consent Codes

    A systematic way of recording data use conditions that are based on consent permissions as found in the datasets of the main public genome archives.

  • Consent Policy

    A guide for the sharing of genomic and health-related data in a way that respects autonomous decision-making while promoting the common good of international data sharing.

  • Consent Tools

    The Public Population Project in Genomics and Society - International Policy interoperability and data Access Clearinghouse (P3G-IPAC) has prepared three consent tools for international data sharing for the Global Alliance for Genomics and Health.

  • Data Sharing Lexicon

    Sharing of genomic and health data is increasingly international, but must contend with discrepancies in the terms employed by applicable laws, ethics policies and regulatory systems. The purpose of this GA4GH Data Sharing Lexicon is to support international data sharing by promoting common/concordant terms within the GA4GH and across jurisdictions and research contexts with the ultimate aim of improving human health.

  • Ethics Review Recognition Policy

    Elaborating on the general principles and guidance offered in the Framework for Responsible Sharing of Genomic and Health-Related Data, this draft Policy on Ethics Review Recognition seeks to provide essential elements of the ethics review process specifically for multi-jurisdictional research involving health-related data.

  • Framework for Responsible Sharing of Genomic and Health-Related Data

    This Responsible Data Sharing Framework:

    • Is founded on a human rights framework (namely, the right to the benefits of science; the right of attribution; and the right of scientific freedom). The Framework responds to the new challenges raised by international, collaborative research;
    • Considers international data sharing to be both a scientific and social benefit;
    • Is based on the premise that such international data sharing has been approved for use by competent bodies in compliance with national and international laws and that respect restrictions on downstream uses; and
    • Is both an aspirational and practical instrument, guiding the interpretation of international norms.

  • Policy Template

    The GA4GH Framework for Responsible Sharing of Genomic and Health-Related Data is founded on Principles and Core Elements. These Principles and Core Elements will be elaborated by Policies on particular issues. This Policy template proposes how such Policies can take shape.

  • Privacy and Security Policy

    A guide for managing privacy and security risks related to data sharing, and to ensuring that data use respects individuals’ expectations and rights.

  • Security Infrastructure

    A security infrastructure policy and technology recommended for stakeholders in the Global Alliance for Genomics and Health (GA4GH) ecosystem.

Security Work Products (4)

  • Framework for Responsible Sharing of Genomic and Health-Related Data

    This Responsible Data Sharing Framework:

    • Is founded on a human rights framework (namely, the right to the benefits of science; the right of attribution; and the right of scientific freedom). The Framework responds to the new challenges raised by international, collaborative research;
    • Considers international data sharing to be both a scientific and social benefit;
    • Is based on the premise that such international data sharing has been approved for use by competent bodies in compliance with national and international laws and that respect restrictions on downstream uses; and
    • Is both an aspirational and practical instrument, guiding the interpretation of international norms.

  • Policy Template

    The GA4GH Framework for Responsible Sharing of Genomic and Health-Related Data is founded on Principles and Core Elements. These Principles and Core Elements will be elaborated by Policies on particular issues. This Policy template proposes how such Policies can take shape.

  • Privacy and Security Policy

    A guide for managing privacy and security risks related to data sharing, and to ensuring that data use respects individuals’ expectations and rights.

  • Security Infrastructure

    A security infrastructure policy and technology recommended for stakeholders in the Global Alliance for Genomics and Health (GA4GH) ecosystem.

Demonstration Projects

Projects demonstrate the value of data sharing as well as showcase Work Products and drive improvements to existing ones.

  • Regulatory and Ethics Data

    Beacon Project

    Beacon Project is an open web service that tests the willingness of international sites to share genetic data. It is being implemented on the websites of the world's top genomic research organizations.

    Beacon Project
  • Regulatory and Ethics Data Clinical

    BRCA Challenge

    The BRCA Challenge aims to advance understanding of the genetic basis of breast and other cancers using data from around the world.

    BRCA Challenge
  • Regulatory and Ethics Data Clinical

    Cancer Gene Trust

    The Cancer Gene Trust is an online network for sharing somatic cancer genomic and clinical data from around the world, making the data accessible for research use in real time.

    Cancer Gene Trust
  • Data Clinical

    Matchmaker Exchange

    Matchmaker Exchange is a federated network of databases whose goal is to find genetic causes of rare diseases by matching similar phenotypic and genotypic profiles.

    Matchmaker Exchange

How We Work

The Global Alliance produces high-impact deliverables to enable data sharing and catalyzes key projects to demonstrate value.

Get Involved!

Get started by becoming an Individual Member and receive updates about ongoing work.