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Learn how GA4GH helps expand responsible genomic data use to benefit human health.
Learn how GA4GH helps expand responsible genomic data use to benefit human health.
Our Strategic Road Map defines strategies, standards, and policy frameworks to support responsible global use of genomic and related health data.
Discover how a meeting of 50 leaders in genomics and medicine led to an alliance uniting more than 5,000 individuals and organisations to benefit human health.
GA4GH Inc. is a not-for-profit organisation that supports the global GA4GH community.
The GA4GH Council, consisting of the Executive Committee, Strategic Leadership Committee, and Product Steering Committee, guides our collaborative, globe-spanning alliance.
The Funders Forum brings together organisations that offer both financial support and strategic guidance.
The EDI Advisory Group responds to issues raised in the GA4GH community, finding equitable, inclusive ways to build products that benefit diverse groups.
Distributed across a number of Host Institutions, our staff team supports the mission and operations of GA4GH.
Curious who we are? Meet the people and organisations across six continents who make up GA4GH.
More than 500 organisations connected to genomics — in healthcare, research, patient advocacy, industry, and beyond — have signed onto the mission and vision of GA4GH as Organisational Members.
These core Organisational Members are genomic data initiatives that have committed resources to guide GA4GH work and pilot our products.
This subset of Organisational Members whose networks or infrastructure align with GA4GH priorities has made a long-term commitment to engaging with our community.
Local and national organisations assign experts to spend at least 30% of their time building GA4GH products.
Anyone working in genomics and related fields is invited to participate in our inclusive community by creating and using new products.
Wondering what GA4GH does? Learn how we find and overcome challenges to expanding responsible genomic data use for the benefit of human health.
Study Groups define needs. Participants survey the landscape of the genomics and health community and determine whether GA4GH can help.
Work Streams create products. Community members join together to develop technical standards, policy frameworks, and policy tools that overcome hurdles to international genomic data use.
GIF solves problems. Organisations in the forum pilot GA4GH products in real-world situations. Along the way, they troubleshoot products, suggest updates, and flag additional needs.
GIF Projects are community-led initiatives that put GA4GH products into practice in real-world scenarios.
The GIF AMA programme produces events and resources to address implementation questions and challenges.
NIF finds challenges and opportunities in genomics at a global scale. National programmes meet to share best practices, avoid incompatabilities, and help translate genomics into benefits for human health.
Communities of Interest find challenges and opportunities in areas such as rare disease, cancer, and infectious disease. Participants pinpoint real-world problems that would benefit from broad data use.
The Technical Alignment Subcommittee (TASC) supports harmonisation, interoperability, and technical alignment across GA4GH products.
Find out what’s happening with up to the minute meeting schedules for the GA4GH community.
See all our products — always free and open-source. Do you work on cloud genomics, data discovery, user access, data security or regulatory policy and ethics? Need to represent genomic, phenotypic, or clinical data? We’ve got a solution for you.
All GA4GH standards, frameworks, and tools follow the Product Development and Approval Process before being officially adopted.
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The Technical Alignment Subcommittee (TASC) supports harmonisation, interoperability, and technical alignment across GA4GH products.
To support interoperability of GA4GH products, the Technical Alignment Subcommittee (TASC) provides mechanisms and recommendations to promote technical alignment across GA4GH products. TASC is formed of both GA4GH Work Stream representatives and GA4GH staff who collaborate to create appropriate solutions that may result in documented recommendations and supporting technical implementations.
While TASC functions as a central technical decision-making body, all of its decisions are informed by relevant stakeholders. The work of TASC, including all documentation and decisions, is regularly and openly communicated back to the GA4GH community for feedback both during and after the development of recommendations. TASC also helps to coordinate the activities of the Data Model and Schema Consensus (DaMaSC) group, which aims to create recommendations around data models, vocabularies and schema sharing.
Pagination provides a structured approach to navigating data, making it easier to process, display, and analyse information. GA4GH supports two types of pagination: token and page based pagination.
Service Info endpoints can be created to allow servers that are using GA4GH APIs to be used within networks. This document details how to add values to the list of Service Info type values.
Number | Issue | Date Created | Date Updated | Details |
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74 | [Issue]: Verified implementations of GA4GH products | August 14, 2025 | August 14, 2025 | |
Issue TitleVerified implementations of GA4GH products Issue TypeDirective Document Problem StatementCurrent state Currently GA4GH has no way of verifying the level of compatibility or depth of implementation of a GA4GH product. We have a listing of implementations on our central website but what it means to be an implementation is unclear. Finally for those wanting to implement a product we have little to no guidance beyond the documents accompanying our products as they flow through PDAP Desired state We seek to have a state where we can define a set of criteria and point to verified implementations of products. In the first instance we want to solve this for open source software (since this is the most tangible) but then expand to other types of products. The same is true for all that we want anyone who creates an implementation of a product to be tagged with this status if it meets the laid out criteria Impact One basic impact is a lack of any kind of end to end implementations demonstrating the interoperability of our products. Projects such as FASP and now those in GIF seek to provide some of this. A suite of implementations that are known to be good would allow for these known demonstration flows to be constructed and demonstrate interoperability. If there are issues they would be flagged as part of this process. Scope ValidationThe work affects everyone in GA4GH who produces products. The PDAP asks for two implementations of a product to review. There is no criteria set to ensure they are "good" implementations of a product though. Plus closed-source or closed network implementations can cause issues in the approval process. We target this work because it will
Proposed Solution(s)See our in-progress doc and this has been discussed at the July in person TASC meeting Estimated Effort LevelLow (1-2 months, minimal resources) Success Criteria
Post release:
How will this issue aid GA4GH harmonization?
Additional contextPlease provide any additional pieces of information you feel is relevant to this issue Work Streams Raising This Issue
Other Groups Raising This IssueNo response Work Streams That Will Be Impacted
Other Groups That Will Be ImpactedNo response Key Stakeholders to ConsultOrg/communities
Tech experts
Decision makers
Products affectedWe will target htsget (server implementation), VRS (schema), refget (server implementation) and DRS (server implementation) to go through this process. We also want to engage with REWS to understand if such a criteria actually works for their products too Additional ContextNo response Priority LevelMedium (should be addressed within 3-6 months) Additional Tags
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73 | [Issue]: UX improvements for the New TASC Issue form | July 18, 2025 | July 18, 2025 | |
Issue TitleClarify the issue submission form issue type for IANA registration Issue TypeOther Problem StatementIf someone wants a Scope ValidationTASC must handle global names within ga4gh, and the issue form should make it clear how to request them. Proposed Solution(s)Should there be extra issue types? Should Schema Alignment be renamed to Namespace Alignment? Estimated Effort LevelLow (1-2 months, minimal resources) Success CriteriaMore clarity in the issue form. How will this issue aid GA4GH harmonization?
wasn't this covered in another form field? Additional contextPlease provide any additional pieces of information you feel is relevant to this issue Work Streams Raising This Issue
Other Groups Raising This IssueNo response Work Streams That Will Be Impacted
Other Groups That Will Be ImpactedNo response Key Stakeholders to ConsultNo response Products affectedJust this form Additional ContextNo response Priority LevelLow (can be addressed in normal course of work) Additional Tags
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71 | Add process and requirements for schema URLs (closes #50) | July 18, 2025 | July 18, 2025 | |
closes #50 | ||||
70 | Documentation for #16 | July 18, 2025 | July 18, 2025 | |
No description. | ||||
68 | Create standard glossary of terms | July 17, 2025 | August 14, 2025 | |
V1 document is here: https://docs.google.com/document/d/1xPFXRF7_Ppe5SDBHTBa1E-MBHHNtoc1Q-jZ1olOrtc4/edit?tab=t.0 Expansion to follow. | ||||
67 | Add geolocation information to implementations catalogued in the service registry | July 14, 2025 | July 18, 2025 | |
Problem Statement Implementation registry service is used for cataloguing implementations of GA4GH standards. Most of the implementations that can be included in the service registry are web-based API standards. The current specification for the registry doesn't expect implementation submission to include geolocation information. With the recent rise in implementations of GA4GH standards, geolocation would be useful information to help understand the geographies where GA4GH standards are being actively implemented. This would help drive GA4GH objectives and decisions to explore ways of increasing the outreach and adoption of standards in nascent geographies. Alignment between GA4GH standards As the registry serves as the catalogue for all web-based API implementations, it can foster collaboration between Work Streams and align with the wider GA4GH objectives such as implementation support and interoperability. This data would also help understand the uptake of standards and any blockers in implementation of any GA4GH standards. Background research and landscape analysis Current specification of service registry doesn't support this data being captured. This gap makes it difficult to understand the adoption map of the standards across the globe. This also blocks providing timely support to institutions who are looking to implement standards in their infrastructure. The implementations currently documented in the registry would need retrospective updates which would be requested from the owners or contacts of the implementations. This would also have the additional benefit of helping flag redundant implementations, and refreshing the list of active implementations in the registry. Proposed solution The solution being proposed is that all the implementations to be catalogued into the service registry should share geolocation information. It would be a mandatory parameter and modelled similar GeoJson (https://geojson.org). | ||||
66 | Interoperability points across products | July 8, 2025 | July 8, 2025 | |
GA4GH products utilize different technologies to support development of specifications and tooling. As a result, an instance of data might be serialized differently depending on the product with which it is used. To improve the interoperability of GA4GH products with each other, key touch points between products should be identified and documented, and harmonized data structures should be developed when the same information is used by two or more products. This issue proposes:
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65 | Create a governance structure for TASC | July 7, 2025 | July 8, 2025 | |
Problem statement The GA4GH Technical Alignment Subcommittee (TASC) needs a formalised governance and leadership structure to be an effective technical leadership group. How this will impact alignment between GA4GH standards The mission of the Technical Alignment Sub-Committee (TASC) of the GA4GH Standards Steering Committee (SSC) is to aid the harmonisation of aspects of GA4GH's products to ensure that they can be used together effectively. TASC provides outputs mechanisms and decisions to create internal consistency and technical alignment across GA4GH Work Streams and deliverables. While TASC functions as a central decision-making body, all of its decisions are informed by relevant stakeholders. The TASC outputs of TASC, including all documentation and decisions, are regularly and openly communicated back to the GA4GH community. Where appropriate, TASC can action product development within its structure when there is need for it and would benefit the GA4GH community, the nature of the work does not naturally fit within one of the work streams, requires significant cross-work stream development, and where sufficient interest and resources exist to develop the solution. Having a well-considered governance structure will determine the scope, leadership and functioning of TASC. Proposed solution The draft governance and leadershup document can be found here, which will need to be voted on and approved. | ||||
64 | Align practices in product development across work streams | June 24, 2025 | July 17, 2025 | |
We should work towards formalizing and aligning on practices for developing GA4GH products and representing their maturity level. The GKS Work Stream has worked to formalize this in their Technical Specification Maintenance processes. There is an opportunity to share and align on these and other work stream practices at the TASC in-person meeting. | ||||
60 | #16 Subtask - transfer ownership of computed digest to TASC | April 2, 2025 | April 2, 2025 | |
Since we are having TASC build the resolver for across all workstreams (not just GKS) then the digest method should be under TASC too. This will also help with setting up a web page that describes the method/algorightm as the "formal" method for referencing. | ||||
59 | #16 Subtask - create GA4GH prefixes .yaml | April 2, 2025 | April 2, 2025 | |
Create a yaml file for prefix registration and use with resolver service. | ||||
58 | #16 Subtask - develop resolver service | April 2, 2025 | April 2, 2025 | |
Resolve | ||||
57 | Create a problem statement template for TASC issues | April 2, 2025 | July 11, 2025 | |
The problemTASC mandates a format for issues to follow but fails to provide a template which would help to enforce the requirements. The solutionWrite a template and deposit in this repository. Confirm with TASC that this is what is needed to actual capture an issue or if we want to add anything else to the template Additional contextNo additional context needed | ||||
54 | GItHub Harmonization | October 23, 2024 | June 24, 2025 | |
To assess and reform current GA4GH workspace structure, practice and naming conventions. | ||||
50 | Establish convention for GA4GH Schema persistent URLs | March 26, 2024 | July 17, 2025 | |
Problem StatementThe GKS Work Stream is trying to align conventions for resolving persistent URLs (pURLs) for schemas maintained by GA4GH. Impact of alignment between standardsConsistency in the structure of pURLs drives consistency and cohesion across products, and makes it easier to document and describe GA4GH schema resources at a high level. Background research and landscape analysisGA4GH already uses w3id.org as a persistent URL resolver for GA4GH products, including VRS 1.3 definitions. The need for persistent URLs is important for use of online JSON Schema documents that should be resolvable by an Proposed solutionWe would like to establish a convention for registering GA4GH schema resolution at w3id.org, and propose the following syntax: In this proposal, the product specific section may be variable from product to product, but otherwise all components are consistent across specifications. This solution requires:
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49 | Moving Standard to Maintenance Mode - Documentation | March 18, 2024 | July 17, 2025 | |
This issue outlines the criteria for moving a standard into maintenance mode, defining responsibilities, establishing review schedules, and documenting any changes or updates that are made during the maintenance phase. https://docs.google.com/document/d/1AdK2_vSNdXf280TgDdGhXsVsjhXvOD0sQSzQgWxH2IY/edit We're putting together a draft proposal from WSMs to describe the problem space and some workflows to facilitate discussions within TASC | ||||
46 | Streamlined API release policies | April 20, 2023 | April 2, 2025 | |
The problemAPI product managers currently each design their own process (possibly with guidance from the corresponding) for releasing updates. This involves a number of decisions to be made and artifacts to be generated and may therefore slow down the release process and lead to inconsistencies between standards or even mistakes. It would be great to define guidelines/policies for releases and reusable artifacts to streamline the process of GA4GH API products. The solutionGuidelines could be drafted that cover, for example:
Reusable artifacts could include:
Additional contextA lot of these guidelines are already in place, implicit or explicit, across the various API products. Similarly, a number of the artifacts may already exist and may already be reusable. Therefore, a survey of the different available guidelines, solutions and artifacts would be useful to further inform the requirements and the work necessary to provide the support as outlined here. Of course, guidelines and corresponding artifacts could themselves be versioned and iteratively improved/amended. | ||||
45 | Broadcasting an API implementation's optional capabilities | April 20, 2023 | April 2, 2025 | |
ProblemThere are situations where managers of GA4GH API products deem certain functionalities "nice to have", but feel that they may not be necessary for all implementations or that they would unduly raise the bar for new implementers. In such cases, product managers/contributors may recommend or even specify support for such features if implementers (or administrators of individual instances) choose to adopt/provide them. Currently, there is no common method for service instances to broadcast any such optional capabilities to make clients aware of such support. An exampleA Driver Project may be interested in the GA4GH Task Execution Service (TES) API providing dedicated support for Crypt4GH-encrypted inputs. Such support may require changes to the TES specification, e.g., additional properties in the task resource creation schema). TES product managers may agree that specific Crypt4GH support is useful but find it unreasonable to mandate that all TES implementations provide such support. They would now have at least two options to provide/specify support:
Either way, if TES implementers choose to provide Crypt4GH support, there is currently no common way of letting clients know about this support. A possible solutionBroadcast optional, but clearly defined capabilities via an API service instance's
This defines an interface for any named Then, in TES, one could further specify the general interface (this shows the general pattern of how the service info's
Note that the suggested (ad hoc) solution does not support nesting of capabilities. For example,
If support for nesting is desired, this will need additional work and decisions on whether there is a pre-defined number of nestings, whether nesting is always required and so on. Possible alternativesI was considering raising this issue in the Service Info API. However, I am not sure whether the service info is definitely the way to go here. Also, I feel that a solution should be dicussed and agreed upon by a wide range of GA4GH API product managers. Additional contextBroadcasting capabilities via the | ||||
43 | Encourage/mandate hosting (Open)API specs at well-known location | February 14, 2023 | April 2, 2025 | |
Problem statementService developers may choose to add implementation-specific properties to a GA4GH API. Or they may even choose to add additional endpoints (e.g., for To give clients the chance to discover and potentially be mindful of OpenAPI modifications, we could mandate or at least encourage the hosting of the actual OpenAPI specification at a well-known location, relative to the API. A possible solutionEncourage or mandate the hosting of the actual (Open)API specfication for a given service instance, as a single source of truth, statically at Given a URL to where the actual specification is hosted (or a base URL to which the client then applies any suffixes or rules described in the Note that this may actually drop the requirement for a given client to be coded against a specific version of an API altogether. A sufficiently "smart" client (if people chose to implement such a client - opinions may differ on whether that is useful or desirable) would not need to be tied to a specific API version, or even be aware of the specification beforehand at all, in order to interact with it. Additional contextI would like to credit the excellent Connexion framework for the "modelless" implementation of "API first" services based on Python Flask (which is underlying almost all of the ELIXIR Cloud & AAI DP services) for inspiration here, as it is statically hosting the final compiled OpenAPI specification, including all modifications, at a configurable path - a feature which we have found useful for the reasons described above, and which we think would be even more useful if all implementers adhere to it (at least optionally). An example of a service for which the API is hosted is here: https://elixir-cloud.dcc.sib.swiss/ga4gh/registry/v1/ui. The API definition for that service, in JSON, is hosted here: https://elixir-cloud.dcc.sib.swiss/ga4gh/registry/v1/openapi.json | ||||
40 | Moving Crypt4GH into its own GitHub repo | June 1, 2022 | April 2, 2025 | |
The Crypt4GH encrypted file format standard is currently part of the hts-specs repo, where it lives next to the SAM, BAM, CRAM, VCF, BED file format standards: https://github.com/samtools/hts-specs. The reason it was placed in there was originally that it is essentially another file format standard (not an API, etc). And samtools was actually the first tool that natively supported it. However, there have been calls to move Crypt4GH into its own GitHub repo instead; which is reasonable. We have two questions: 1 - Is this a good idea? Does it fit with the larger view on standards in the GA4GH? 2 - What would be the best name/location for this new repo? (Is there a naming scheme that differentiates between standards, implementations, APIs, etc. in https://github.com/ga4gh/?) | ||||
39 | Citing GA4GH standards | April 29, 2022 | June 24, 2025 | |
This issue has been raised recently in two Work Streams. LSG have discussed the issue here: https://github.com/samtools/hts-specs/issues/179 In addition, Discovery have had this question in relation to citation of the Data Connect standard in the time period before a publication can be released. As additional background, GA4GH is redeveloping its website, which could theoretically play a role in some of the possible solutions to this. It would be useful for TASC to investigate and determine an approach that can, ideally, be applied consistently across GA4GH. | ||||
16 | GA4GH Namespace policy | April 28, 2020 | July 18, 2025 | |
Problem StatementThe VRS standard submitted a proposal to the GA4GH Steering Committee to approve the use of the VRS is preparing to release new data type prefixes under the Impact of alignment between standardsDue to the organization-level namespacing, any CURIEs generated under this namespace should have a consistent meaning across products. If two standards (e.g. refget and VRS) develop identifiers with similar prefixes or inconsistent structures under the Background research and landscape analysisWe have worked to create an identifier scheme that has been reviewed and approved by unanimous vote of the GA4GH Steering Committee. We have established several type prefixes already, with more that will be generated over the next year as we iteratively expand VRS. This has direct relevance to the DRS, VRS, and refget standards, and likely others down the road. Proposed solutionThe VRS Project Maintainers are granted authority to build additional type prefixes under the In addition, a TASC-maintained public registry of type prefixes (approved, reserved, and pending) should be provided for quick reference by product developers and implementers. | ||||
5 | Harmonise identifier (e.g. RNAME/Contig, Sample) rules across formats and protocols | February 3, 2020 | April 2, 2025 | |
There are a number of short identifier-sized pieces of metadata that are used across many GA4GH products. For example:
These items of metadata are embedded within the surrounding text using various delimiters in these various formats and protocols. So there are various restrictions on what characters may appear in them so as to avoid conflicting with the delimiter characters or otherwise requiring complicated escaping or encoding mechanisms. It would be good to harmonise these restrictions across GA4GH products, so that a value that was e.g. a valid Sample identifier in one product could be assumed to also be valid in other products. | ||||
2 | Central GA4GH Ticketing | January 13, 2020 | April 2, 2025 | |
Per M Haendel: a place to put requests such as these. It would be terrific if there was a more coordinated suite of GitHub repos and a central ticketing/work tracking system across them for GA4GH. Please let us know if you want help or advice in setting up such a thing, we are happy to contribute. | ||||
1 | Central Metadata Registry for approved standards | January 13, 2020 | April 2, 2025 | |
Per M Haendel: I think we need a central, computable metadata registry for approved standards. This information can then be automatically ingested by other systems. For example, we have a really nice metadata registry for the OBO ontology standards here. Here is an example for HPO: https://github.com/OBOFoundry/OBOFoundry.github.io/blob/master/ontology/hp.md |
A project submitted to TASC will go through several steps.
TASC Lead
Product lead for: refget Sequence Collections | refget Sequences