Unmasking the Genome Workshop

Unmasking the Genome: Integrating WGS, AI and Functional Genomics In partnership with Google DeepMind and the U.K. Human Functional Genomics Initiative, the University of Exeter is offering a 4 day workshop covering a range of genome-sequencing topics, where students will get expert-led hands-on experience with the newly developed AlphaGenome. Rapid technological developments are ushering the field of human genetics into the era of whole-genome sequencing, blended with breakneck advances machine-learning tools to predict functional importance of genetic variation. Google DeepMind’s AlphaGenome represents a step-change in our ability to annotate the predicted effect of non-coding genetic variants. In parallel, there are now millions of whole-genome sequences from deeply phenotyped individuals (in cohorts like UK Biobank and All of Us) enabling the comprehensive analysis of non-coding rare and common variants across diseases. However, the rapid increase in size (>20Pb) and complexity of sequencing and annotation data has outpaced the expertise needed to enable new insights and new therapeutic targets. The University of Exeter’s Genomics group has been leading the way in developing the tools and understanding required to analyse this data. In an exciting four day program, in partnership with Google DeepMind, we will bring together the state-of-the-art AlphaGenome predictions, and both Exeter’s world-leading expertise in WGS analyses and leadership of UK Human Functional Genomics Initiative. Our four day in person summer school consists of a series of workshops and seminars which cover a range of sequencing-related topics, including details on the AlphaGenome model, how to use AlphaGenome for population-scale aggregate testing, Quality Control of WGS data, and how to bring your findings into functional validation. Students will hear from experts from across the genetics field, and network with like-minded researchers. Guest talks from: Professor Joe Marsh from The University of Edinburgh More to be announced soon Organising Committee: Dr Gareth Hawkes (MRC Career Development Fellow & Lecturer in Health Data Science) Prof Michael Weedon (Professor of Human Genetics) Dr Robin Beaumont (NIHR BRC Fellow & Senior Lecturer) Mr Stuart Cannon Mr Harry Wright Dr Kartik Chundru Prof Caroline Wright (Professor of Genomic Medicine) Prof Jonathan Mill (Professor of Epigenomics) Mr Ollie Smail Starr Young Paul Kainth Whats included in the course: - Morning tea & coffee with pastries each day - Lunch each day of the course - A networking dinner on the first night of the course to meet the attendees and course leaders - A gala dinner on the last night with the organising committee in attendance Whats included in the accommodation package: In addition to the above - Accommodation at nearby Holland Hall (walking distance to the course venue) - Breakfast - WIFI included By signing up for this summer school, you attest that you have a working knowledge of genetics (e.g. undergraduate/PhD student level), and must be capable of using linux-based systems, bash coding, Python, and/or R. This course is aimed at post-graduate or post-doctoral researchers, with a bachelors’ degree and are currently engaged in research in the field.