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Atlas of Variant Effects Alliance : Precision medicine at nucleotide resolution

Atlas of Variant Effects Alliance:
Precision medicine at nucleotide resolution

AVE

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

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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 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

Latest Seminar

Deep mutational scanning reveals gain- and loss-of-function mechanisms impacting oncogenic KRAS activity Deep mutational scanning reveals gain- and loss-of-function mechanisms impacting oncogenic KRAS activity

1 July 2025.

Julien is a PhD candidate in the Biological and Biomedical program at Harvard University. He is conducting his graduate work in the laboratory of Dr. Andrew Aguirre at Dana-Farber Cancer Institute and the Broad Institute. His research aims to understand response and resistance to RAS-targeted therapies in pancreatic cancer through large scale variant screens, single-cell RNAseq and genetically engineered models

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