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.
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.
Learn how other organisations have implemented GA4GH products to solve real-world problems.
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Help create new global standards and frameworks for responsible genomic data use.
Align your organisation with the GA4GH mission and vision.
Solve your real-world data problems with support from this valuable network of global institutions.
Work with like-minded groups committed to better data use in areas like rare disease, cancer, and infectious disease.
Share your thoughts on all GA4GH products currently open for public comment.
Solve real problems by aligning your organisation with the world’s genomics standards. We offer software dvelopers both customisable and out-of-the-box solutions to help you get started.
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Attend an upcoming GA4GH event, or view meeting reports from past events.
See new projects, updates, and calls for support from the Work Streams.
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1 Jun 2022
GA4GH welcomes Dr Geraldine Van der Auwera to its Standards Steering Committee (SSC), as Co-Lead of the Large Scale Genomics (LSG) Work Stream.
The Global Alliance for Genomics and Health (GA4GH) welcomes Dr Geraldine Van der Auwera to its Standards Steering Committee (SSC) as Co-Lead of the Large Scale Genomics (LSG) Work Stream. Dr Van der Auwera is the fifth new member of GA4GH’s SSC this year.
Van der Auwera, Director of Outreach and Communications for the Data Sciences Platform (DSP) at the Broad Institute of MIT and Harvard, joins LSG leadership alongside Dr Oliver Hofmann of the University of Melbourne. The announcement follows the departure of Dr Thomas Keane of EMBL’s European Bioinformatics Institute (EMBL-EBI), who has served with Hofmann since the inception of the Work Stream in 2017.
The LSG Work Stream creates standardized methods for accessing large-scale genomic data (reads, variants, and expression data) by file-based, API-based, cloud-based, and distributed access. LSG has several ongoing sub-group projects. For example, the draft VCF v4.4 specification is currently open for Public Comment, the refget team aims to move to a new testbed infrastructure by GA4GH 10th Plenary in September, and the RNAget team is drafting a search table schema for use with the Data Connect API. To learn more about the Work Stream or how to get involved please contact the LSG manager, Reggan Thomas.
“Under Oliver and Thomas’ leadership, the LSG Work Stream has produced an impressive body of technical work on standards that are key to genomic research activities,” said Van der Auwera. “My hope, as I step into this role, is to enable the group to pivot toward a greater emphasis on community awareness, adoption, and participation in order to maximize the impact of this work.”
As part of her outreach role at the Broad Institute, Van der Auwera serves as an educator and advocates for researchers who use DSP software and services like the Genome Analysis Toolkit (GATK), the Broad’s industry-leading toolkit for variant discovery analysis; the Cromwell/WDL workflow management system; and Terra.bio. Terra is a cloud-based analysis platform developed by the Broad Institute, Microsoft, and Verily to integrate computational resources, methods repository and data management in a user-friendly environment while utilizing GA4GH standards.
Originally trained as a microbiologist, Van der Auwera earned her PhD in Biological Engineering from the Universite Catholique de Louvain (UCL) in Belgium, followed by a four-year postdoctoral fellowship at Harvard Medical School. “My formal training was in classical microbiology and molecular biology (circa 2000), so very much wet lab, with minimal computational training,” said Van der Auwera. She joined the Broad Institute in 2012 to oversee the GATK user community, leaving behind the bench and pipette forever.
“I taught myself Python during my PhD as part of an early sequencing project — a 72kb bacterial plasmid — and came to rely heavily on open-source software resources like BioPython. My interest in open science really crystallized when I joined the Broad Institute to support the GATK community and discovered the human genomics ecosystem, which presented me with a whole new kind of scale and level of technical complexity,” said Van der Auwera. “I had front row seats to bleeding-edge genomics development, and my job was to make sure everyone else outside the Institute could also utilize what our teams were building — in combination with a whole ecosystem of other tools, methodologies and data types.”
She has been an active member of the GA4GH community since 2021. “I’ve been following the activities and progress of GA4GH (without getting directly involved) since probably 2016. In 2020 I started occasionally writing or editing Terra blog posts about GA4GH-related activities and products, and in 2021 I joined some calls of the EDI cross-Work Stream, mainly out of personal interest,” said Van der Auwera. “When the call for a new LSG co-lead came out, it seemed like a fantastic opportunity to get more directly involved in an area where my particular background — which is a mix of technical, scientific, and community development experience — could add value.”