The Global Alliance for Genomics and Health (GA4GH) Product Steering Committee has approved the release of two new GA4GH products: refget Sequence Collections and Variation Representation Specification (VRS) v2.0. 

27 Mar 2025

Refget Sequence Collections embeds a standard algorithm to assign a unique identifier for a collection of sequences. Product development was led by Nathan Sheffield (University of Virginia), Timothee Cezard (EMBL’s European Bioinformatics Institute), Andy Yates (EMBL’s European Bioinformatics Institute), Sveinung Gundersen (ELIXIR Norway), Shakuntala Baichoo (Peter Munk Cardiac Centre – Artificial Intelligence), and Rob Davies (Wellcome Sanger Institute).

Read the refget Sequence Collection press release here.

Variation Representation Specification (VRS) v2.0 establishes a standardised computational language that enables integration of variant evidence across different sequence collections used by resources in order to advance a broader framework for sharing variant knowledge. Product development of VRS v2.0 was led by Alex Wagner (Nationwide Children’s Hospital) and Larry Babb (Broad Institute of MIT and Harvard).

Read the VRS v2.0 press release here.

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