Atlas of Variant Effects Alliance:
Precision medicine at nucleotide resolution

Art by Uta Mackensen (CC BY-ND) Image Description: Background: A world map and chromosome idiogram. Foreground: People moving amongst and inspecting larger than life Variant Effect Maps of clinically important genes BRCA1, HMBS, MTHFR and TDP-43.

The vision of the Alliance is to create 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. The goal of our Alliance is to bring together data generators, curators and consumers, along with funders and other stakeholders, to set standards, share tools and develop strategy.

By describing the effects of variants in the genome, the atlas will accelerate and empower biological research, drug discovery and medical practice.

Graphic Credits: kjpargeter Freepik, Sayeh Gorjifard and Uta Mackensen

Join us

The Alliance welcomes individuals from academia, industry, government or other entities anywhere in the world

Variant Effects Seminar Series

In this series, early-career scientists from around the globe share and discuss their research related to interpreting human genetic variation

Mutational Scanning Symposium

8th Annual Mutational Scanning Symposium in Barcelona, Spain

Latest Event

10th Annual Mutational Scanning Symposium 2027

23 June 2027, Seattle WA USA.

Details coming soon!

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Latest AVE Mention in the News

MSS 2026 Wrap Up: ‘Comprehensive Overview of Where the Field is Heading, with Cutting-edge Technological Advances’

1 April 2026.

Lorenzo Vaccaro, a postdoctoral researcher at the Telethon Institute of Genetics and Medicine, offers observations and insights about the conference.

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Latest Seminars

Modeling variant effects in FACS-based deep mutational scans with Lilace

5 May 2026.

Jerome is a Bioinformatics PhD student in the Pimentel lab at UCLA. He is interested in models that use experimentally induced and natural genetic variation to understand the foundations of human traits and disease. His research focuses on modeling variant effects with deep mutational scanning data.

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Towards predictive models of variant effects on protein abundance (by learning from mutational scanning on different proteins)

5 May 2026.

Thea did her PhD research in the Lindorff-Larsen lab at the University of Copenhagen and is currently a postdoc with Joe Greener at the MRC Laboratory of Molecular Biology. During her PhD, Thea researched how missense variation affects the cellular abundance of a protein. Concretely, she combined data from abundance MAVEs (VAMP-seq) on several proteins to study the cellular abundance of variants across protein backgrounds. Thea's talk will focus on what can be learned from such large-scale analyses and why...more

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