GA4GH Discovery News and Updates

Discovery Co-Lead Appointed

GA4GH Discovery Work Stream welcomes new Co-Lead Nara Sobreira of Johns Hopkins Medicine

Nara Lygia De Macena Sobreira, associate professor of genetic medicine at Johns Hopkins University School of Medicine, joins the GA4GH Standards Steering Committee as Discovery Work Stream Co-Lead.

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Discovery Co-Lead Nominations

Opening for a new work stream co-lead

With the announcement of Marc Fiume's retreat from his Discovery leadership role there is now an opportunity for a person with experience in "-omics" data in biomedical settings as well as a strong interest to shape the future of GA4GH and genommic data exchange in general to step up to the challenge of a workstream leadership position!

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Beacon v2 standard highlighted during the GA4GH April Connect 2023

Last month Beacon was present at the GA4GH Connect 2023, the working meeting to advance the GA4GH Roadmap and gather feedback on product development and needs.

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Beacon v2 at the International Congress of Human Genetics

Hands-on sessions on genomic data discovery

These Hands-on workshops will take place on February the 26th and 27th, in the framework of the International Congress of Human Genetics (ICHG), that is being held in Cape Town from February 22 – 26.

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Beacon training course: How to make COVID-19 sensitive data discoverable using Beacons

The online workshop BEACON - How to make sensitive data discoverable will take place on November 2 and 3. The European Genome-phenome Archive (EGA) Beacon Team will provide a special hands-on training session for the BY-COVID partners for "Beaconising" the datasets.

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Progenetix & BeaconPlus - An open cancer genomics resource on a stack of Beacon code...

ELIXIR All Hands Amsterdam 2022

Michael Baudis

Here Michael provides some overview of the multi-year trajectory of the Beacon API development, and how BeaconPlus & Progenetix have been utilized for "implementation driven design".

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Beacon implementations: Beaconize your genomics data

Beacon v2 Workshop at ELIXIR All Hands

Hosts: Lauren Fromont, Michael Baudis & Jordi Rambla

One of the main bottlenecks in human genomics research is the lack of tools for federated discovery of identifiable genomics data that requires tight privacy controls. This problem needs even more attention since genomics data sees an ever greater application in clinical settings, such as for medical diagnostic or prognostic purposes, in rare diseases or cancer. Continue reading

Beacon v2 submitted to GA4GH

Beacon v2 was submitted to the Global Alliance for Genomics and Health and is now available for public review! Our specification is available on Github and several implementations are already available!

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The GA4GH Beacon Protocol at BC2

Michael Baudis presenting Beacon in the session Federating computational analyses with GA4GH standards

BC2 Basel 2021

BC2 logoDuring the "Federating computational analyses with GA4GH standards" workshop at BC2 2021 Michael presented history and the current status of the Beacon project, as well as its integration with specific data resources and analysis initiatives.

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Progenetix, Beacon and GA4GH at RDA

ELIXIR Beacon Project - Concepts | Status | History | Outlook

Michael Baudis

Research Data Alliance - RDA Virtual Plenary 17

This seminar gives an overview of current state of the Progenetix Beacon project and the overall connection to the Global Alliance for Genomics and Health (GA4GH).

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ELIXIR Beacon Project - Networking Resources Across and Beyond ELIXIR Human Data Communities

ELIXIR Open Day 2020 - Wellcome Trust Genome Campus Hinxton

Michael Baudis

In this presentation I introduce the Beacon project and provide my opinions about its future trajectory, and especially its role in driving the alignment of ELIXIR and GA4GH projects in related to (human) genome data sharing.

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DNAstack Launches Clinical Evidence Beacons

DNAstack Launches Clinical Evidence Beacons to Drive Crowdsourcing for Genetic Disease Discovery

TORONTO, Ont. (Oct. 15, 2019) — DNAstack today announced the launch of "Clinical Evidence Beacons" on the Beacon Network, a real-time search engine for finding genetic mutations across a global network of genomic datasets. These additions will enable medical laboratories to crowdsource the interpretation of variants through a secure social network.

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Federated discovery and sharing of genomic data using Beacons

Beacon publication at Nature Biotechnology

Marc Fiume, Miroslav Cupak, Stephen Keenan, Jordi Rambla, Sabela de la Torre, Stephanie O. M. Dyke, Anthony J. Brookes, Knox Carey, David Lloyd, Peter Goodhand, Maximilian Haeussler, Michael Baudis, Heinz Stockinger, Lena Dolman, Ilkka Lappalainen, Juha Törnroos, Mikael Linden, J. Dylan Spalding, Saif Ur-Rehman, Angela Page, Paul Flicek, Stephen Sherry, David Haussler, Susheel Varma, Gary Saunders and Serena Scollen

Today, Nature Biotechnology published the Beacon manuscript "Federated discovery and sharing of genomic data using Beacons". This was accompanied by a GA4GH press release. Enjoy!

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Press Release: GA4GH and ELIXIR Release Beacon API v1...

GA4GH and ELIXIR Release Beacon API v1 with increased security measures

ELIXIR and the Global Alliance for Genomics and Health (GA4GH) have announced the release of the first genomic data interoperability standard from the GA4GH 2018 Strategic Roadmap.

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GA4GH Beacon v1.0

Release of the first official GA4GH Beacon product

The official Beacon API v1.0.0 has been approved through the GA4GH Product Approval Process.

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Global network of Beacons - Beacon v0.4

Global network of Beacons lighting up the world of genomic data

The Beacon Project has released new Beacon API v0.4 specifications to provide greater search functions and richer search results.

These API specifications are available through the new Beacon website which will provide up-to-date support and regular updates on the project developments. v0.4 of Beacon has been developed with support from ELIXIR and constitutes the basis for the upcoming GA4GH approval process towards a "v1".

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