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

9th Annual Mutational Scanning Symposium in Melbourne, Australia

Latest Event

10th Annual Mutational Scanning Symposium 2027

23 June 2027, Seattle WA USA.

We hope you can join us!

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Latest AVE Mention in the News

Variant effect predictors: AVE's resource expands into non-coding territory

7 October 2026.

AVE's Analysis, Modelling and Prediction (AMP) workstream has recently delivered a major expansion of one of its most-used tools: a resource cataloguing computational models for predicting variant effects. Previously covering coding variants, the resource now also covers non-coding predictors, an area of interest which is growing rapidly. We spoke to Prof. Joe Marsh (Institute of Genetics and Cancer, University of Edinburgh) about how the resource was developed, what makes non-coding predictors so different from their coding counterparts, and whether VEPs will ever replace deep mutational scanning.

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Latest Seminars

Exploring the allostery of a multi domain signaling protein with deep mutational scanning

1 December 2026.

I achieved my bachelor's degree in chemistry from Nankai University, China in 2019. From 2019 to 2025, I received my PhD training in Columbia chemistry in Prof. Neel Shah's lab studying the tyrosine phosphatase, SHP2, which is what my talk is about. Currently, I'm working in Prof. Olga Boudker's lab at Weill Cornell Medicine trying to apply deep mutational scanning on an intracellular membrane protein.

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Mutational landscape of echinocandin resistance

1 December 2026.

I'm a researcher based in Québec, Canada. I was initially trained in Biological Engineering in France, then did an MSc and PhD in Sherbrooke (QC), working on bacterial mobile genetic elements. Between 2021 and early 2026, I was a postdoc in the lab of Prof. Christian Landry in Québec. I learned about yeast, antifungals and deep mutational scanning (DMS). Since April, I've been working as a bioinformatician, working mostly on spatial transcriptomics, with some DMS still.

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