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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)

User access
Protocol

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

Data Security Work Stream, Data Use & Researcher Identity (DURI) Work Stream
Approved

Bad Actors in Research Environments (BARE)

Security/regulation/ethics
Policy tool

Aims to provide guidance for detecting intentional misuse of life science data in controlled environments

Data Security Work Stream
Study group

Beacon

Data discovery
API

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

Discovery Work Stream
Approved

Browser Extensible Data (BED)

Genomic/phenotypic/clinical data representation
File format

Stores information on the location of genomic features

Large-Scale Genomics (LSG) Work Stream
Approved

Clinical Data Sharing and Consent

Security/regulation/ethics
Policy tool

Elucidates what clinical data can be shared without a patient or participant’s explicit consent for quality care improvement

Regulatory & Ethics Work Stream (REWS)
In development

Cloud Security and Privacy

Security/regulation/ethics
Policy framework

Aims to develop recommendations for secure and privacy-protecting use of cloud services

Data Security Work Stream
In development

Cohort Representation

Genomic/phenotypic/clinical data representation
Data model or ontology

Aims to create a standard or set of guidelines to computationally describe a cohort and query it across a network

Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Discovery Work Stream
Study group

Consent Policy

Security/regulation/ethics
Policy framework

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

Regulatory & Ethics Work Stream (REWS)
Approved

Consent Toolkit

Security/regulation/ethics
Policy tool

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

Regulatory & Ethics Work Stream (REWS)
Approved

CRAM

Genomic/phenotypic/clinical data representation
File format

Uses data compression strategies to efficiently store genomic data

Large-Scale Genomics (LSG) Work Stream
Approved

Data Access Committee Review Standards (DACReS) Toolkit

User access
Policy framework

Provides guiding principles and procedural standards for data access committees

Regulatory & Ethics Work Stream (REWS), Data Use & Researcher Identity (DURI) Work Stream
Approved

Data Connect

Data discovery
API

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

Discovery Work Stream
Approved

Data Privacy and Security Policy

Security/regulation/ethics
Policy framework

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

Regulatory & Ethics Work Stream (REWS)
Approved

Data Repository Service (DRS)

Cloud genomics
API

Provides a standardised set of data retrieval methods

Cloud Work Stream
Approved

Data Security Infrastructure Policy (DSIP)

Security/regulation/ethics
Policy framework

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

Data Security Work Stream
Approved

Data Use Ontology (DUO)

Security/regulation/ethics
Data model or ontology

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

Data Use & Researcher Identity (DURI) Work Stream
Approved

Diversity in Datasets

Security/regulation/ethics
Policy framework

Aims to develop a policy framework that addresses how to promote global diversity in datasets within genomic research

Regulatory & Ethics Work Stream (REWS)
In development

Ethical Provenance Toolkit

Security/regulation/ethics
Policy tool

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

Regulatory & Ethics Work Stream (REWS)
In development

Ethics Review Recognition Policy

Security/regulation/ethics
Policy framework

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

Regulatory & Ethics Work Stream (REWS)
Approved

Family History Toolkit

Genomic/phenotypic/clinical data representation
Policy tool

Provides tools and best practices for documenting family health history information

Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Regulatory & Ethics Work Stream (REWS)
Ongoing

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

Security/regulation/ethics
Policy framework

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

Regulatory & Ethics Work Stream (REWS)
Approved

Framework for responsible sharing of genomic and health-related data

Security/regulation/ethics
Policy framework

Provides foundational principles for responsible data sharing

Regulatory & Ethics Work Stream (REWS)
Approved

GDPR & International Health Data Sharing Forum

Security/regulation/ethics
Ethical legal regulatory and social guidance

Publishes regular briefs exploring the impact of GDPR on sharing genomics and related health data

Regulatory & Ethics Work Stream (REWS)
Approved

Genetic Data Encryption (Crypt4GH)

Genomic/phenotypic/clinical data representation
API

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

Large-Scale Genomics (LSG) Work Stream
Approved

Genetic Discrimination Toolkit

Security/regulation/ethics
Policy tool

Explores key issues and the implications of addressing genetic discrimination

Regulatory & Ethics Work Stream (REWS)
Ongoing

Genetic Variation Formats (VCF)

Genomic/phenotypic/clinical data representation
File format

Provides a text file format for storing genetic variation data

Large-Scale Genomics (LSG) Work Stream
Approved

htsget

Cloud genomics
API

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

Large-Scale Genomics (LSG) Work Stream
Approved

Machine Readable Consent Guidance (MRCG)

User access
Technical implementation guidance

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

Regulatory & Ethics Work Stream (REWS), Data Use & Researcher Identity (DURI) Work Stream
Approved

Passports

User access
API

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

Data Use & Researcher Identity (DURI) Work Stream, Data Security Work Stream
Approved

Pedigree

Genomic/phenotypic/clinical data representation
Data model or ontology

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

Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream
In development

Pharmacogenomics Data Standardisation

Genomic/phenotypic/clinical data representation
Data model or ontology

Aims to develop a pharmacogenomics data standard to address translational gaps across disparate health systems and enable equitable clinical decision support

Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream
Study group

Phenopackets

Genomic/phenotypic/clinical data representation
Data model or ontology

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

Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream
Approved

Policy on Clinically Actionable Genomic Research Results

Security/regulation/ethics
Policy framework

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

Regulatory & Ethics Work Stream (REWS)
Approved

Public Attitudes for Genomic Policy — Blog Posts

Security/regulation/ethics
Ethical legal regulatory and social guidance

Translates findings from the “Your DNA, Your Say” project and other studies of public attitudes into useful briefs and infographics

Regulatory & Ethics Work Stream (REWS)
Ongoing

refget

Data discovery
API

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

Large-Scale Genomics (LSG) Work Stream
Approved

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

Security/regulation/ethics
Policy framework

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

Regulatory & Ethics Work Stream (REWS)
Approved

Risk Assessment Methodology for Software Stacks

Security/regulation/ethics
Technical implementation guidance

Aims to provide a risk assessment framework for software stacks

Data Security Work Stream
Study group

RNAget

Genomic/phenotypic/clinical data representation
API

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

Large-Scale Genomics (LSG) Work Stream
Approved

SAM/BAM

Genomic/phenotypic/clinical data representation
File format

Provides a format for storing next-generation sequencing read data

Large-Scale Genomics (LSG) Work Stream
Approved

Sequence Annotation (SA)

Genomic/phenotypic/clinical data representation
Data model or ontology

Aims to develop a flexible, common model for describing genomic features

Genomic Knowledge Standards (GKS) Work Stream, Large-Scale Genomics (LSG) Work Stream
Study group

Service Info

Data discovery
API

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

Discovery Work Stream
Approved

Service Registry

Data discovery
API

Facilitates service discovery by collecting multiple web services into groups

Discovery Work Stream
Approved

Task Execution Service (TES)

Cloud genomics
API

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

Cloud Work Stream
Approved

Tool Registry Service (TRS)

Cloud genomics
API

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

Cloud Work Stream
Approved

Variant Annotation (VA)

Genomic/phenotypic/clinical data representation
Data model or ontology

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

Genomic Knowledge Standards (GKS) Work Stream
In development

Variant Benchmarking Tools

Genomic/phenotypic/clinical data representation
Technical implementation guidance

Offers methods for robustly checking variant call accuracy

Large-Scale Genomics (LSG) Work Stream
Approved

Variation Representation (VRS)

Genomic/phenotypic/clinical data representation
Data model or ontology

Used by computers to structure and exchange information about variants

Genomic Knowledge Standards (GKS) Work Stream
Approved

WGS Quality Control Standards

Genomic/phenotypic/clinical data representation
Data model or ontology

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

Large-Scale Genomics (LSG) Work Stream, Genomic Knowledge Standards (GKS) Work Stream
In development

Workflow Execution Service (WES)

Cloud genomics
API

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

Cloud Work Stream
Approved

Your DNA, Your Say (Participant Values Survey)

Security/regulation/ethics
Policy tool

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

Regulatory & Ethics Work Stream (REWS)
Approved

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.