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Atlas of Variant Effects Alliance : Precision medicine at nucleotide resolution

Atlas of Variant Effects Alliance:
Precision medicine at nucleotide resolution

Atlas of Variant Effects Alliance

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

25 March 2026, Melbourne, Australia.

Mutational Scanning Symposium 2026

Event jointly organized by: AVE and St Vincent's Institute of Medical Research

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Latest AVE Mention in the News

Two Organizers of the Variant Effects Seminars Share Observations and Insights

10 November 2025.

We aim to strike a balance between theoretical, computational, and experimental approaches to ensure comprehensive coverage of the field.

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Latest Seminar

Understanding GPCRs with massive mutagenesis

2 December 2025.

Taylor grew up in Illinois on the banks of the Mississippi River. He did the PhD in Brian O’Roak’s lab in Portland, Oregon, where he studied mutational effects on the cancer and autism risk gene, PTEN. For postdoctoral work, he moved to Ben Lehner’s lab in Barcelona, where he has focussed on developing and deploying massive mutagenesis platforms for understanding expression and function of GPCRs, the most important family of drug targets.

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AVE in Action