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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

New guidelines aim to improve transparency and trust in genetic prediction tools New guidelines aim to improve transparency and trust in genetic prediction tools

30 April 2025.

Researchers from the Institute of Genetics and Cancer have been working with the Atlas of Variant Effects Alliance to provide practical guidelines for releasing new computational tools known as variant effect predictors (VEPs).

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Latest Seminar

Saturation mapping of MUTYH variant effects using DNA repair reporters   Saturation mapping of MUTYH variant effects using DNA repair reporters  

3 June 2025.

Shelby Hemker is a Postdoctoral Fellow at the University of Michigan and is funded by the American Cancer Society. Shelby's work in the Dr. Jacob Kitzman Laboratory has included development of a new functional assay to measure DNA damage repair by the adenine glycosylase MUTYH, of which the pre-print is available on bioRxiv. Other projects include assaying other DNA repair factors linked to inherited cancers. Shelby's previous research experiences include her PhD from the University of Pittsburgh, where she studied...more

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