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

9th Annual Mutational Scanning Symposium 2026

23 March 2026, Melbourne, Australia.

Mutational Scanning Symposium 2026

Event jointly organized by: T.B.A.

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Latest AVE mention in the News

MSS 2024 Debrief: ‘I Ended Up Attending Every Talk and Gained Valuable Insights from the Poster Sessions’

9 June 2025.

BBI’s Shawn Fayer and Noelia Ferruz Capapey, a Group Leader at the Centre for Genomic Regulation in Barcelona, reflect on the 8th annual Mutational Scanning Symposium.

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Latest Seminar

Medical genetics in the Greenlandic population

1 July 2025.

Frederik is a postdoc in the Section for Computational Biology at University of Copenhagen. A few months ago, he was awarded his PhD with the title ‘Medical genetics in the Greenlandic population’, which will also be the focus of the talk. The main part of the work was recently featured in Nature and focuses on the impact of including data from the Greenlandic population in genetic research. Frederik's background is in biomedicine and bioinformatics.

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