The 6th Annual Mutational Scanning Symposium, the first one to take place outside of North America and at the Hinxton Hall Conference Centre, on the Wellcome Genome Campus, was organised by the Wellcome Connecting Science Learning and Training team, and members of the Atlas of Variant Effects Alliance. The Alliance is an international collaborative effort to create an atlas of all possible variants of human genes and is spearheading efforts to advance the use of mutational scanning technologies.
These new methodologies, also referred to as Multiplex Assays of Variant Effect (MAVE), are key to variant interpretation and are transforming our understanding of the human genome. The forum served as a platform to discuss how to apply data gathered in these experiments in a clinical setting - from diagnosing rare developmental diseases to understanding the basic mechanisms of disease gene function.
The two-day symposium gathered over 400 researchers in the fields of functional genomics, protein science, precision medicine, variant interpretation and computational genetics. The event was supported by Wellcome Connecting Science Conferences and Events with Professor Frederick ‘Fritz’ Roth, from the University of Toronto as keynote speaker.
Even though all humans share over 99.9 per cent of the same genome sequence, an individual’s genome can vary slightly due to changes in the DNA sequence - these small changes are called variants and they are what make each of us unique. Mapping out all these variants and their impact on health and disease are the primary goals of the Atlas of Variant Effects Alliance and are being conducted via a combination of biological and computational methods known as mutational scanning. These technologies look closely at mutations in our DNA with the aim to understand how variation impacts factors such as our physical traits, health, and disease at a much larger scale than previously used analysis techniques.