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

Variant Effects Seminar Series Celebrates Milestone: 100th Presenter Since 2021

27 April 2026.

Nearly five years of consistent programming, a growing global community, and an enduring commitment to open science’, the Variant Effects Seminar Series (VESS), hosted online each month by the Atlas of Variant Affects (AVE) Alliance, will celebrate a milestone in June: its 100th presenter since it was launched in 2021.

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Latest Seminar

Disentangling the biophysical effect of missense variants using protein dark energy

2 June 2026.

I'm a postdoctoral researcher at the Dias and Frazer lab at the Centre for Genomic Regulation (CRG) in Barcelona, where I work on disentangling the biophysical effects of missense variants. My background is in physics and biological chemistry — I did my PhD at the University of Buenos Aires studying protein folding thermodynamics and evolution. I'm broadly interested in connecting evolutionary and physical principles to understand how mutations reshape protein behavior.

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