This October marks the one-year anniversary of the Atlas of Variant Effects (AVE) Alliance.
AVE is an international collaborative whose mission is to galvanize and coordinate global efforts to produce multiplexed functional data for human and pathogen genes to inform human disease. The Alliance currently has more than 200 members, who include technology developers, data producers and analysts, researchers, clinicians, curators, data consumers, funders and other stakeholders, from over 10 countries.
Three of AVE’s Executive Committee members – Drs. Matthew Hurles of the Wellcome Sanger Institute, Lea Starita of the University of Washington, and Frederick (Fritz) Roth of the University of Toronto –reflect on this past year and also offer a glimpse into the future.
What are some of the highlights of the AVE’s first year?
Dr. Hurles: The sheer enthusiasm of the AVE community to come together to share expertise and data and the way that the vision of AVE has so clearly resonated with such a broad community of researchers.
Dr. Starita: Finding so many people with the shared passion and interest in understanding genetic variation and driving the field forward.
Dr. Roth: It has been so heartening not only to watch membership of AVE grow, but to see how willing everyone has been to be open about their ideas. One example is the incredible response we got when we asked AVE members to openly share information via the MaveRegistry (https://registry.varianteffect.org), a collaborative platform more formally known as Multiplexed Assays of Variant Effect. Members posted not only their published efforts, but also their unpublished and ongoing variant effect mapping projects. In the past year, more than 150 MAVE studies and more than 65 research teams have been registered.
