The Eighth annual MSS Symposium will be in May. Why is this meeting important?
This meeting represents an opportunity to bring together our community of researchers. We discuss the latest advances in research. We also catch up with our colleagues on the work being done as we continue to drive forward this field – this big international field – of variant affects analysis. It’s a young, engaging, open community, and one I very much enjoy being a part of.
The objective of the Atlas of Variant Effects Alliance is to create comprehensive variant effect maps to assist in the diagnosis, prognosis, and treatment of disease. When might such a goal be realized?
The Alliance itself and the development of the technology are relatively young. We have recently established the feasibility of delivering atlases for whole genes and sets of genes, and in parallel, there has been a lot of work to scale variant effect mapping, with the vision being to deploy these methods across the whole genome.
I was at the Sanger Institute at the time the human genome was being sequenced. Over the last two decades I have watched the astronomical improvements in sequencing technology that made this endeavor a reality. I think today, we are exactly at a point in variant effect mapping where the feasibility and the approaches are being established and I imagine we will see several sea changes in the methods we use over the next decade that will allow us to deliver a genome-wide atlas. In 10 to 15 years, we should be able to deliver a variant effect map for all diseases. Of course, we will need financial investment for the technologies to mature.
