Multiplex assays of variant effects (MAVEs) are a series of high throughput experimental methods used to interrogate the phenotypic or functional effects of thousands of genetic variants in parallel. They have rapidly increased our ability to assess variants of uncertain significance (VUS) where rare or unknown variants may be responsible for pathogenic disease-associated effects. Their recent adoption into clinical diagnostics provides additional evidence for variant interpretation and translation. This week-long residential course offers participants an opportunity to engage with an international team of MAVE experts, and gain insight into the generation, application, analysis, and interpretation and evaluation of MAVE data. Participants will learn how these assays are performed, how to access available tools and resources, and how utilise various analysis pipelines to determine and interpret variant effects according to the American College of Medical Genetics and Genomics (ACMG) framework. What will this course cover? This new addition to our programme will be delivered as a combination of seminars and discussions, interactive tutorials, and hands-on laboratory demonstrations and computer practical sessions which cover: Introduction to MAVEs and their applications How data is generated and the methods of experimentation Open Source tools, databases, and resources Quality control and analysis of MAVE data Evaluation and assessment of suitability of MAVE outputs Translation and interpretation of MAVE data in clinical settings The course content will be delivered in English. Who is this course for? This course is open to postdoctoral scientists, advanced PhD students, clinicians or clinical scientists, interested in genetic variant interpretation and actively engaged in or soon to commence research or utilise MAVE and MAVE datasets in their work from anywhere in the world.

What will you achieve?

After completing this course, you will be able to:

• Discuss the principles behind different MAVE assay technologies and their applications.
• Access and work with publicly available MAVE datasets and resources utilising open-source tools and reproducible, well-documented analysis pipelines
• Implement computational workflows for processing and quality control of MAVE data
• Apply appropriate statistical methods to interpret MAVE data
• Analyse real-world MAVE datasets to gain biological insights into a disease or population of interest by integrating them with other data drawn from population genomics or disease association
• Evaluate the potential of MAVE to enable discoveries in disease gene studies and therapeutic development
• Discuss the challenges and opportunities in leveraging MAVE for more equitable global health applications
• Critically evaluate the strengths and limitations of different MAVE approaches

This course will start at approximately 1pm on Sunday 23 November 2025 and end at 3pm on Friday 28 November 2025.

The programme will include lectures, seminars, demonstrations, and hands-on analysis sessions on the following topics:

• Introduction to MAVE
  • Overview and history of MAVE and how and where it is being currently applied
• Applications of MAVE
  • From research to medicine to industry – how has MAVE been incorporated into what we do
• Data generation and experimental design
  • Saturation mutagenesis
  • Massively parallel reporter assays
  • Different phenotypic readout
• MAVE resources and tools
  • How to access relevant resources and utilise open source tools
• Analysis
  • MAVE data analysis pipelines
  • QC and data evaluation
• Interpretation and clinical translation
  • ACMG standards and guidelines for variant interpretation
  • Real-world scenarios and applications of MAVE

Participants will also complete group projects using existing datasets to consolidate their learning.

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