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.
To guide our collaborative, globe-spanning alliance, GA4GH relies on a Standards Steering Committee and an Executive Committee.
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 four 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.
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.
Find out what’s happening with up to the minute meeting schedules for the GA4GH community.
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All GA4GH standards, frameworks, and tools follow the Product Development and Approval Process before being officially adopted.
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7 Feb 2023
A GA4GH group that tackles the problem of representing structural variations in sequenced DNA is seeking members. (Interested? Complete a brief form.)
In 2019, the GA4GH Genomic Knowledge Standards (GKS) Work Stream released the Variation Representation Specification (VRS), a standard that offers a flexible framework of computational models, schemas, and algorithms to precisely and consistently exchange genetic variation data across different fields and user communities. (For instance, pharmacogenomics researchers may describe genetic variants differently than mendelian disease clinicians do.)
The specification significantly reduces ambiguity when exchanging variation data. This makes the clinical annotations that are central to personalised medicine much more reliable and useful.
VRS was deliberately designed as an extensible model that can precisely and computably capture standard computational data structures for basic biological concepts, such as “allele,” “sequence,” and “genotype.” The specification also reflects more complex descriptions of biological variation, such as haplotypes, and copy number variation models.
A category of variation of particular interest to the Variation Representation team is the broader class of structural variation. Often described as rearrangements of large segments of DNA, structural variations can have a significant impact on human disease. They are also notoriously difficult to resolve using short-read sequencing technology. And no matter what sequencing technology you use, they are challenging to represent. This stems partly from the fact that structural variations tend to occur in large genomic regions that are highly repetitive and highly variable from one person to the next.
To tackle this challenge, and achieve the long-standing goal of incorporating structural variations into VRS, the GKS Work Stream is convening clinicians, bioinformaticians, electronic health record vendors, researchers, testing laboratory representatives, genomic-knowledge-base maintainers, and anyone else involved in the reporting and exchange of patient genomic data in a Special Interest Group focused on structural variation. The group will undertake a time-limited effort to standardise structural variation modelling and development. It will cover fusions, rearrangements, and other classes as selected by group members.
The Special Interest Group will aim to develop a VRS model and schema for representing structural variations discretely and computably. To accomplish this, they will identify and review structural variation concepts from disparate use cases. The Special Interest Group will use this landscape analysis to define the scope and models for concepts supporting structural variations — including breakpoint coordinates, exon/intron identification, transcript junctions, segment phasing, impacted genes, and (de)composition of complex variants.
If you are interested in participating in the new VRS Special Interest Group focused on structural variation, complete this form. With broad representation of expertise and experience, the GKS Work Stream hopes to effectively and efficiently work through this crucial challenge.