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 Effects Seminar Series: past, present and future

13 July 2026.

Recently, the Variant Effect Seminar Series (VESS) marked its 100th speaker. As we look to next 100, we chat with two of its original presenters, Mafalda Dias and Jonathan Frazer. Discover how VESS has influenced their journey, their connection to the 100th speaker, Ezequiel Galpern, and what’s next for them.

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Latest Seminars

Mapping the functional landscape of proteins with Tiled-Region Exchange (T-REx) Mutagenesis

1 September 2026.

Kortni is a PhD candidate in the Nguyen Ba Lab at the University of Toronto, Canada, where she utilizes deep mutational scanning to map how genetic variants alter protein function and drive rare genetic diseases. Her research focuses on rare disease genes and understanding how sequence variation influences transcription factor binding specificity. She uses Tiled-Region Exchange (T-REx) Mutagenesis, a novel high-throughput approach recently published by her and her lab, to systematically generate and study genetic variation at scale, using yeast as...more

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evedesign: accessible biosequence design with a unified framework

1 September 2026.

Sergio is a computational biologist and biochemist passionate about building statistical and machine learning solutions to engineer living systems and advance biotechnology. My work focuses on developing novel computational approaches for functional protein engineering, with an emphasis on AI-driven enzyme design. I am currently pursuing a PhD at the University of Cambridge and the Wellcome Sanger Institute, working closely with Harvard Medical School.

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