About us
Learn how GA4GH helps expand responsible genomic data use to benefit human health.
Our products
Explore our open-source standards, frameworks, and tools. Learn how they empower responsible genomic data use worldwide.
Authorisation and Authentication Infrastructure (AAI)
Enables secure data sharing by communicating the permissions needed to conduct research
Bad Actors in Research Environments (BARE)
Aims to provide guidance for detecting intentional misuse of life science data in controlled environments
Beacon
Enables researchers to discover new, relevant datasets while honouring patient consents and legal requirements
Browser Extensible Data (BED)
Stores information on the location of genomic features
Categorical Variation Representation Specification (Cat-VRS)
Aims to develop a data model (and related tools) for categorical variants in genomic knowledge-bases.
Clinical Data Sharing and Consent
Elucidates what clinical data can be shared without a patient or participant’s explicit consent for quality care improvement
Cloud Security and Privacy
Aims to develop recommendations for secure and privacy-protecting use of cloud services
Consent Policy
Provides guidelines for the international sharing of genomic and related health data
Consent Toolkit
Documents designed to help researchers and clinicians draft clear, informative consent forms
CRAM
Uses data compression strategies to efficiently store genomic data
Data Access Committee Review Standards (DACReS) Toolkit
Provides guiding principles and procedural standards for data access committees
Data Connect
Connects researchers to information on datasets regardless of how the data was originally stored or formatted
Data Model and Schema Consensus (DaMaSC)
Explores ways to facilitate interoperability across GA4GH products and Work Streams
Data Privacy and Security Policy
Guides sharing of genomic and related health data to respect participant and patient privacy and integrity
Data Repository Service (DRS)
Provides a standardised set of data retrieval methods
Data Security Infrastructure Policy (DSIP)
Provides security and technology infrastructure recommendations for genomic and related health data sharing
Data Use Ontology (DUO)
Allows data stewards to tag datasets with permitted use terms that facilitate data discovery and access
Diversity in Datasets
Shares actionable recommendations to promote global diversity in datasets within genomic research
Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework
Develops framework for ethical conduct in human-pathogen genomics research during pandemics and epidemics
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
Ethics Review Recognition Policy
Provides a standard baseline of the ethics review process for research involving multiple jurisdictions
Experiments Metadata Standard
Specifies the minimum information needed to characterise a genomic experiment
Family History Toolkit
Provides tools and best practices for documenting family health history information
Federated Cohort Building
Aims to explore methods for researchers to search across cohorts
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
Framework for responsible sharing of genomic and health-related data
Provides foundational principles for responsible data sharing
Genetic Data Encryption (Crypt4GH)
Provides an encrypted file format to keep data secure throughout its lifetime while allowing random access
Genetic Discrimination Toolkit
Explores key issues and the implications of addressing genetic discrimination
Genetic Variation Formats (VCF)
Provides a text file format for storing genetic variation data
Health Data Sharing, Privacy, and Regulatory Forum (formerly GDPR Forum)
Publishes regular briefs exploring laws and regulations, including data protection laws, that impact the sharing genomics and related health data
htsget
Allows users to download read and variation data for subsections of the genome
Machine Readable Consent Guidance (MRCG)
Describes how to map consent forms directly to the Data Use Ontology (DUO)
Passports
Contains a researcher’s securely-encoded “Visas,” which allow access to genomic datasets
Pedigree
Allows for computable exchange of family health history and representation of larger, more complex families
Pharmacogenomics Data Standardisation
Aims to develop a pharmacogenomics data standard to address translational gaps across disparate health systems and enable equitable clinical decision support
Phenopackets
Offers a human and machine-readable way to structure clinical and phenotypic data about a patient or individual
Policy on Clinically Actionable Genomic Research Results
Provides guidance on establishing policies for returning genomic results to research participants
Public Attitudes for Genomic Policy — Blog Posts
Translates findings from the “Your DNA, Your Say” project and other studies of public attitudes into useful briefs and infographics
refget
Employs a computer algorithm to unambiguously identify reference sequences for genomic analysis
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
Risk Assessment Methodology for Software Stacks
Aims to provide a risk assessment framework for software stacks
RNAget
Provides a common set of communication channels to efficiently retrieve RNA data of interest
SAM/BAM
Provides a format for storing next-generation sequencing read data
Sequence Annotation (SA)
Aims to develop a flexible, common model for describing genomic features
Service Info
Provides a simple standardised protocol to describe information about a single web service
Service Registry
Facilitates service discovery by collecting multiple web services into groups
Task Execution Service (TES)
Provides a standard mechanism for orchestrating complex analyses across different compute environments
Tool Registry Service (TRS)
Provides a standard mechanism to list, search, and retrieve tools and workflows across multiple registries
Variant Annotation (VA)
Aims to define a modelling framework and machine-readable schema to represent statements of knowledge about genetic variations
Variant Benchmarking Tools
Offers methods for robustly checking variant call accuracy
Variation Representation (VRS)
Used by computers to structure and exchange information about variants
WGS Quality Control Standards
Describes a set of quality control metrics and their detailed definitions to facilitate exchange of results across initiatives
Workflow Execution Service (WES)
Describes a protocol for running the same genomic data analysis in multiple cloud environments
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