“A testament to the power of collaboration, curiosity, and innovation in advancing variant effect research.”
This forward-looking summary of progress in 2025 underscores the work of the Atlas of Variant Effects (AVE) Alliance toward achieving its mission to creating comprehensive maps for key regions of human and pathogen genomes. Drs. Matt Hurles of the Wellcome Sanger Institute and Doug Fowler of the Department of Genome Sciences at the University of Washington, Co-Chairs of the Alliance’s Executive Committee, also note in their introduction to the 30-page annual report: “The AVE Alliance continues to grow – not just in numbers, but in ambition, reach, and impact. We are proud to be part of a community advancing science, as well as nurturing the next generation of researchers.”
Appropriately, the theme of the 2025 report is “A Year of Momentum and Connection.”
Among the highlights of that momentum and those connections are:
- Completing high-impact variant effect maps for genes with direct clinical relevance
- Creating a new weeklong educational course focused on Multiplex Assays of Variant Effects (MAVEs) in Hixton, U.K.
- Launching MaveMD (MAVEs for MeDicine), a new interface making MAVE data more accessible for clinical variant classification and interpretation
- Hosting the eighth annual Mutational Scanning Symposium in Barcelona
- Forming a new Virology Interest Group
- Establishing the ClinGen-AVE Functional Data Working Group with partners from key research organizations, including: ClinGen, a federal agency serving as a central resource defining the clinical relevance of genes and variants; the Impact of Genomic Variation on Function Consortium (IGVF); the Global Alliance for Genomics and Health (GA4GH); and the National Institutes of Health.
In addition, the Alliance in 2025 exceeded 800 members from 380 institutions in 58 geographic regions worldwide. Member are from government, academia, advocacy groups, and foundations; they range from early and mid-career scientists, as well as senior-level individuals.
“Through dedicated workstreams and cross-institutional collaborations, AVE members have also contributed to a growing body of community resources and educational materials,” Hurles and Fowler said. “There are now more than a dozen peer-reviewed publications that advance MAVE technologies, establish experimental and analytical standards, and inform clinical variant interpretation. These outputs reflect the strength of our community and its commitment to open, rigorous, and translational science.”
Looking ahead to 2026, the AVE Alliance, with support from the Brotman Baty Institute and other organizations, will be hosting the ninth annual Mutational Scanning Symposium, March 25th through 27th, in Melbourne Australia. The symposium brings together hundreds of researchers, scientists, industry leaders, and others interested in genetic variant effects. More information on speakers, sponsorship opportunities and registration is available on the symposium website.
