Advancing the promise of the Human Genome Project by interpreting the landscape of human genetic variation

Atlas of Variant Effects Alliance - ABOUT US

Our Values

The Alliance aims to foster a culture of transparency, honesty, Integrity, and inclusivity with the intent of empowering and engaging its members and stakeholders. The Alliance believes that a diverse and inclusive community is absolutely essential to the achievement of our shared scientific goals. We also believe that it is critical to address racial disparities in genomics and health research, to insure that all people can benefit from the Alliance’s work.

Our Mission

The Atlas of Variant Effects is an international collaborative effort with a mission to propel systematic measurements of variant impact on functional elements of human and pathogen genomes, towards diagnosing and treating human disease and understanding genes, gene products and their regulation. (You can also read more about our mission and approach here: An Atlas of Variant Effects to understand the genome at nucleotide resolution)

Our Structure

The administrative home for the Alliance is at the University of Washington Department of Genome Sciences and the Brotman Baty Institute. The organization and governance of the Alliance is designed to provide a lightweight framework that maximizes impact while retaining the ability to grow and adapt with the Alliance. We envision the Alliance serving a broad array of stakeholders, falling into at least four overlapping categories: technology developers; data producers and analysts; data consumers; individuals and organizations providing genotypic or trait data; and funders.

 

Dream

Our goal is to build an atlas of the impact of all possible sequence variants for disease-related functional elements, beginning with single nucleotide variants (SNVs). The Atlas of Variant Effects (AVE) will transform our understanding of genetics by ushering in a new era of nucleotide-resolution knowledge of our genome

Build

We are an international community of researchers, analysts, clinicians, patients and funders working with/ alongside major genomics and genetics initiatives and consortia, with the intent to:

  • Develop, disseminate and democratize the foundational experimental technologies for mapping variant effects

  • Coordinate and generate high quality variant effect maps

  • Facilitate, support and motivate the generation of smaller scale, complementary, high quality datasets by a broad community of researchers with domain-specific expertise

  • Establish standards, infrastructure and partnerships for storing, analyzing, validating and disseminating the data for maximum impact

Manifest

We believe that the Alliance will propel systematic measurements of variant impact on functional elements of human and pathogen genomes which will lead to advances in diagnosing and treating human disease and understanding genes, gene products and their regulation.

The findings, materials and resources generated by Alliance research will be made freely available to the research community.

 

“The AVE Alliance represents a next step in, and will help drive, the adoption and impact of mutational scanning. As the Alliance has grown, I’ve been so happy that the community is so collegial, inclusive, and collaborative. The takeaway is just how versatile mutational scanning is to answer all sorts of questions in biology, protein engineering, and medicine.” - Doug Fowler