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Explore our open-source standards, frameworks, and tools. Learn how they empower responsible genomic data use worldwide.

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Authorisation and Authentication Infrastructure (AAI)

Enables secure data sharing by communicating the permissions needed to conduct research

Protocol
Data Security, Data Use & Researcher Identity (DURI)
AAI v1.0Approved

Beacon

Enables researchers to discover new, relevant datasets while honouring patient consents and legal requirements

API
Discovery
Beacon v2.0Approved

Browser Extensible Data (BED)

Stores information on the location of genomic features

File format
Genomic Knowledge Standards (GKS)
BED v1.0Draft

Categorical Variation Representation Specification (Cat-VRS)

Provides a data model (and related tools) for categorical variants in genomic knowledge-bases.

Data model / ontology
Genomic Knowledge Standards (GKS)
v1.0.0Approved

Clinical Data Sharing

This group elucidates the circumstances under which clinical data may be shared without a patient’s explicit consent for quality and timely clinical care improvement.

Policy tool
Regulatory & Ethics (REWS)

Consent Policy

Provides guidelines for the international sharing of genomic and related health data

Policy
Regulatory & Ethics (REWS)

Consent Toolkit

Documents designed to help researchers and clinicians draft clear, informative consent forms

Policy tool
Regulatory & Ethics (REWS)

CRAM

Uses data compression strategies to efficiently store genomic data

File format
Genomic Knowledge Standards (GKS)
CRAM v3.0Draft

Data Access Committee Review Standards (DACReS) Toolkit

Provides guiding principles and procedural standards for data access committees

Policy
Regulatory & Ethics (REWS), Data Use & Researcher Identity (DURI)

Data Connect

Connects researchers to information on datasets regardless of how the data was originally stored or formatted

API
Discovery
Data Connect v1.0Draft

Data Passports

A computable, visa-based governance framework  using GA4GH Passports to represent data access policies in a clear and standard manner

Data model / ontology
Data Security, Data Use & Researcher Identity (DURI)

Data Privacy and Security Policy

Guides sharing of genomic and related health data to respect participant and patient privacy and integrity

Policy
Regulatory & Ethics (REWS)

Data Repository Service (DRS)

Provides a standardised set of data retrieval methods

API
Federated Analysis (formerly Cloud )
DRS v1.4Draft

Data Security Infrastructure Policy (DSIP)

Provides security and technology infrastructure recommendations for genomic and related health data sharing

Policy
Data Security
Data Security Infrastructure Policy v4.0Draft

Data Sharing Lexicon

Provides common or concordant terminology for data sharing within GA4GH and across jurisdictions, disciplines, and individual providers of health care and research

Policy resource
Regulatory & Ethics (REWS)

Data Use Ontology (DUO)

Allows data stewards to tag datasets with permitted use terms that facilitate data discovery and access

Data model / ontology
Data Use & Researcher Identity (DURI)
DUO v1.0Approved

Data Visiting

This group further evaluates the concept of Data Visiting to help navigate the legal challenges that exist.

Policy resource
Regulatory & Ethics (REWS)

Diversity in Datasets

Shares actionable recommendations to promote global diversity in datasets within genomic research

Policy tool
Regulatory & Ethics (REWS)

Ethical Provenance Toolkit

Tools to promote consistency and harmonisation throughout the stages of the biomedical data life cycle — ensuring clear oversight despite differences between institutions

Policy tool
Regulatory & Ethics (REWS)

Ethics Review Recognition Policy

Provides a standard baseline of the ethics review process for research involving multiple jurisdictions

Policy
Regulatory & Ethics (REWS)

Experiments Metadata Checklist (Expmeta)

Specifies the minimum information needed to characterise a genomic experiment

Data model / ontology
Discovery
v1.0.0Approved

Family History Toolkit

Provides tools and best practices for documenting family health history information

Policy tool
Clinical & Phenotypic Data Capture (Clin/Pheno), Regulatory & Ethics (REWS)

Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation

Helps institutions evaluate their engagement strategies with research participants, patients, and the public

Policy
Regulatory & Ethics (REWS)

Framework for responsible sharing of genomic and health-related data

Provides foundational principles for responsible data sharing

Policy
Regulatory & Ethics (REWS)

Generative AI for Genomic Data Sharing

Develops guidance on the responsible use of generative AI in large-scale genomic databases

Policy resource
Regulatory & Ethics (REWS)

Genetic Data Encryption (Crypt4GH)

Provides an encrypted file format to keep data secure throughout its lifetime while allowing random access

File format
Data Security
Crypt4GH v1.0Draft

Genetic Discrimination: Implications for Data Sharing Projects (GEDI)

Explores key issues and the implications of addressing genetic discrimination

Policy resource
Regulatory & Ethics (REWS)
Part of Genetic Discrimination Toolkit

Genetic Variation Formats (VCF)

Provides a text file format for storing genetic variation data

File format
Genomic Knowledge Standards (GKS)
VCF v4.5Draft

Genomic sequencing in newborn screening

Developing a policy tool for those in the genomic newborn sequencing field to navigate ethical, legal, and social implications.

Policy tool
Regulatory & Ethics (REWS)
v1.0.0Approved

Global ELSI: Building Global Capacity for Genomics Research

Collaborates with researchers in low- and middle-income countries (LMICs) to develop practical, context-appropriate resources that help navigate legal and ethical issues in genomic data sharing

Policy resource
Regulatory & Ethics (REWS)

htsget

Allows users to download read and variation data for subsections of the genome

API
Federated Analysis (formerly Cloud )
htsget v1.3Draft

Human Exposome Data Standards

Builds standards to help researchers share and combine data on environmental exposures that affect human health

Data model / ontology
Clinical & Phenotypic Data Capture (Clin/Pheno)

Machine Readable Consent Guidance (MRCG)

Describes how to map consent forms directly to the Data Use Ontology (DUO)

Technical implementation guidance
Regulatory & Ethics (REWS), Data Use & Researcher Identity (DURI)

Passports

Contains a researcher’s securely-encoded “Visas,” which allow access to genomic datasets

API
Data Security, Data Use & Researcher Identity (DURI)
Passports v1.2Draft

Pathogen Genomic Data Sharing: Bridging the Sovereignty and Access Divide

Practical guidance for equitable sharing of pathogen genomic data to support pandemic preparedness and response while respecting data sovereignty rights

Policy resource
Regulatory & Ethics (REWS)

Pedigree

Allows for computable exchange of family health history and representation of larger, more complex families

Data model / ontology
Clinical & Phenotypic Data Capture (Clin/Pheno)
Pedigree v1.0Draft

Phenopackets

Offers a human and machine-readable way to structure clinical and phenotypic data about a patient or individual

Data model / ontology
Clinical & Phenotypic Data Capture (Clin/Pheno)
Phenopackets v2.0Draft

Policy on Clinically Actionable Genomic Research Results

Provides guidance on establishing policies for returning genomic results to research participants

Policy
Regulatory & Ethics (REWS)

Position Statement on Genetic Discrimination

Explores key issues and the implications of addressing genetic discrimination.  

Policy resource
Regulatory & Ethics (REWS)
Part of Genetic Discrimination Toolkit

refget Sequence Collections

Solves naming chaos for genomes by generating unique identifiers for collections of sequences

API
Federated Analysis (formerly Cloud )
v1.0.0Draft

refget Sequences

Employs a computer algorithm to unambiguously identify reference sequences for genomic analysis

API
Federated Analysis (formerly Cloud )
Refget Sequences v2.0Draft

Responsible Data Sharing to Respond to the COVID-19 Pandemic: Ethical and Legal Considerations

Shares key legal and ethical issues of human genomic research in the context of the COVID-19 pandemic

Policy
Regulatory & Ethics (REWS)

RNAget

Provides a common set of communication channels to efficiently retrieve RNA data of interest

API
Federated Analysis (formerly Cloud )
RNAget v1.2Draft

SAM/BAM

Provides a format for storing next-generation sequencing read data

File format
Genomic Knowledge Standards (GKS)
SAM v1.6Approved

Sequence Annotation (SA)

Aims to develop an extensible, common model for describing genomic features

Data model / ontology
Genomic Knowledge Standards (GKS)

Service Info

Provides a simple standardised protocol to describe information about a single web service

API
Discovery
Service Info v1.0Draft

Service Registry

Facilitates service discovery by collecting multiple web services into groups

API
Discovery
Service Registry v1.0Draft

Task Execution Service (TES)

Provides a standard mechanism for orchestrating complex analyses across different compute environments

API
Federated Analysis (formerly Cloud )
TES v1.1Draft

Tool Registry Service (TRS)

Provides a standard mechanism to list, search, and retrieve tools and workflows across multiple registries

API
Federated Analysis (formerly Cloud )
TRS v2.0Draft

Variant Annotation (VA)

Defines a modelling framework and machine-readable schema to represent statements of knowledge about genetic variations

Data model / ontology
Genomic Knowledge Standards (GKS)
v1.0.0Approved

Variation Representation Specification (VRS)

Used by computers to structure and exchange information about variants

Data model / ontology
Genomic Knowledge Standards (GKS)
VRS v2.0Draft

Whole Genome Sequencing (WGS) Quality Control (QC) Standards

Describes a set of quality control metrics and their detailed definitions to facilitate exchange of results across initiatives

Data model / ontology
Genomic Knowledge Standards (GKS)

Workflow Execution Service (WES)

Describes a protocol for running the same genomic data analysis in multiple cloud environments

API
Federated Analysis (formerly Cloud )
WES v1.1Approved

Your DNA, Your Say (Participant Values Survey)

Explores how people around the world feel about the collection, use, and sharing of genetic and health data for research

Policy resource
Regulatory & Ethics (REWS)

Toolkits

Toolkits are GA4GH products that share a common theme, or are designed to be used together. Explore our toolkits below.

Genetic Discrimination Toolkit

Provides resources to help genomic data initiatives, funders, and policymakers adopt more streamlined approaches to address genetic discrimination.

Regulatory & Ethics (REWS)

Want to see our products in action?

Discover how people are using GA4GH products to share data, bring genomics into the clinic, and conduct research across borders.

Are you a developer? Check out our developer resources, with tools you can use to pilot GA4GH technical standards.