Atlas of Variant Effects (AVE) Alliance

“Precision medicine at nucleotide resolution” AVE


An international collaboration to galvanize and coordinate global efforts to produce multiplexed functional data for human and pathogen genes to inform human disease. The Alliance brings together data generators, curators and consumers, along with funders and other stakeholders, to set standards, share tools, and develop strategy.

AVE Website >

About AVE:

  • Founded in October of 2020
  • Over 500 members from over 30 countries
  • 4 workstreams developing standards, providing tools and disseminating information
    • Analysis, Modelling and Prediction
    • Clinical Variant Interpretation
    • Data Coordination and Dissemination
    • Experimental Technology and Standards
  • Organizes and hosts the annual Mutational Scanning Symposium
  • Sponsors monthly Trainee led Variant Effects Seminar Series

The goal of the Alliance is to collectively produce a nucleotide-resolution atlas (collection of comprehensive variant effect maps) for important regions of human and human pathogen genomes that could ultimately assist in the diagnosis, prognosis, and treatment of disease. It is hoped that the Atlas will have major impacts on:

  • Genetic diagnosis
  • Disease prediction and prevention
  • Personalised medicine
  • Disease association studies
  • Disease mechanisms
  • Drug development
  • Sequence/structure/function relationships
  • Evolutionary genetics
  • Pathogen biology

Learn more about the Alliance here >

The AVE Executive Committee:

The AVE Executive Committee:
David Adams, Senior Group Leader at the Wellcome Sanger Institute
Doug Fowler, Associate Professor of Genome Sciences and an Adjunct Associate Professor of Bioengineering at the University of Washington
Anna Gloyn, Professor of Pediatrics and by Courtesy Genetics at Stanford University.
Matthew Hurles, Head of Human Genetics and Senior Group Leader, Wellcome Sanger Institute
Debora Marks, Associate Professor of Systems Biology at Harvard Medical School
J.T. Neal, Merkin Institute Fellow and Senior Group Leader at the Broad Institute of MIT & Harvard
Frederick (Fritz) Roth, U Toronto, Sinai Health
Irene Gallego Romero, SVI Medical Research, Melbourne
Alan Rubin, computational biologist, Walter and Eliza Hall Institute of Medical Research in Melbourne, Australia
Lea Starita, Research Assistant Professor in the Department of Genome Sciences at the University of Washington

Lara Muffley - Program Manager, Department of Genome Sciences, University of Washington