MAVE resources

Multiplexed assays of variant effects (MAVEs) allow us to assess (in a single experiment) thousands of variants simultaneously. This technique, which harnesses the power of next-gen sequencing, yields large-scale data sets that can shed light on the functional consequences of protein variants and ultimately on the the landscape of human genetic variation. We are currently working on providing a comprehensive MAVE knowledge base. We hope these preliminary resources will be a helpful starting place!

If you are interested in helping to further develop this resource, please contact program manager Lara Muffley (muffley [@] uw.edu)

So you want to make (or use!) a variant effect map…

What tools do I need? What variables should I consider? How do I get started?

Educational Resources (clinical application)

• Introduction to Deep Mutational Scanning Animation

• Workshop Nov 2023: Functional evidence and how to use it (Villani & Spurdle)

• Workshop June 2024: Functional evidence evaluation (Villani & Spurdle)

• Interpreting Genomic Variation: Overcoming Challenges in Diverse Populations (Wellcome Connecting Science Course)

• Interested in how to use functional evidence in your clinical practice? Visit our Clinical Application page to learn how!

Educational Resources (experimental)

• Comprehensive MAVE-relevant reviews Thinking about incorporating MAVEs into your work? Visit our MAVE educational resources page to find comprehensive MAVE-relevant reviews.

• Technology and methods development manuscripts Designing a MAVE?
  >>Follow this link<< to view granular reviews and seminal papers relevant to methods at each stage of the MAVE development process.

Experimental Protocols

New! MAVE protocols collection in protocols.io.

https://www.protocols.io/workspaces/atlas-of-variant-effects-alliance

To add your protocol to the collection, please read this how-to guide or watch this how-to-video.

Educational Videos

• Visit (and subscribe to!) our youtube channel (which we jointly manage with CMAP/CEGS)

• Introduction to Deep Mutational Scanning Animation

• Deep Mutational Scanning Basics with Dr. Kenny Matreyek

• Learn about MaveDB - the public repository for datasets from Multiplexed Assays of Variant Effect (MAVEs)

  • “Understanding the functional consequences of every mutation in Your Favourite Gene”

  • “MaveDB: discovery and interpretation of high-throughput functional assay data”

Computational Resources

• Variant Effect Predictors https://www.varianteffect.org/veps

• MAVE Analysis Tools https://www.varianteffect.org/analysis-tools

Monthly Seminar / Annual Meeting

• Variant Effects Seminar Series

• Mutational Scanning Symposium

Discussion Forums

Atlas of Variant Effects Alliance community slack channel (https://www.varianteffect.org/membership)