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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

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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

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

Phylogeny-Driven Approaches for Variant Effect Prediction

5 August 2025.

Nurdan Kuru is currently a postdoctoral researcher in Siepel Lab at Cold Spring Harbor Laboratory. Previously, she was a postdoctoral researcher from 2021 to 2024 at Adebali Lab at Sabancı University, Turkey. Her talk will discuss her work at Adebali Lab, where she developed phylogeny-aware algorithms for variant effect prediction and coevolution. She holds BSc and MSc degrees in Mathematics and a PhD in Industrial Engineering. Her current research focuses on computational evolution and population genomics, specifically developing a multi-ancestry...more

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