Unmasking the Genome: Integrating WGS, AI and Functional Genomics

Workshop
  • September 1, 2026 - September 4, 2026
  • 12:00 - 18:00
  • Peter Chalk Centre, The University of Exeter, Exeter, EX4 4QD
Register here
Unmasking the Genome: Integrating WGS, AI and Functional Genomics

In partnership with Google DeepMind and the UK Human Functional Genomics Initiative, the University of Exeter is offering a 4 day workshop covering a range of genome-sequencing topics, where delegates 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 retreat 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. Delegates will hear from experts from across the genetics field, and network with like-minded researchers.

Guest talks from:

Prof. Joe Marsh (Professor of Computational Protein Biology, Edinburgh University)

Prof. Xihong Lin (Professor of Biostatistics, Harvard T.H. Chan School of Public Health) 

Dr. Clare Bycroft (Google DeepMind)

More to be announced soon

Agenda

(Subject to change)

Day 1 – Tuesday 1st September 12:00 – 18:00 

An introduction to whole genome sequencing, variant calling, and quality control 

Opening address: Prof. Caroline Wright FMedSci (Professor of Genomic Medicine, University of Exeter) 

  • Whole genome sequencing technologies 
  • Variant calling and sequence quality control 
  • Copy number and complex structural variations 

Plenary talk: To be announced 

 

Day 2 – Wednesday 2nd September 09:00 – 18:00 

Genomic variant annotation methodologies led by Google DeepMind 

Plenary talk: Dr. Clare Bycroft (Google DeepMind) 

  • Challenges of annotating the non-coding genome 
  • Ensembl Variant Effect Predictor and custom annotations 
  • Alpha-Suite (AlphaGenome, AlphaFold, AlphaMissense) 
  • Machine-Learning annotation tools 

Plenary talk: To be announced

 

Day 3 – Thursday 3rd September 09:00 – 18:00 

Using whole-genome sequencing to identify new causes of rare and complex disease 

Plenary talk: Prof. Xihong Lin (Professor of Biostatistics, Harvard T.H. Chan School of Public Health)  

AM – Population-scale genetics 

  • Methods for analysis of population cohorts to identify associated loci 
  • Statistical challenges and computational feasibility 
  • Interpretation of associated loci 

PM – Rare disease and variant pathogenicity 

  • Pathogenicity, penetrance, and expressivity 
  • Insights from isolated communities 
  • Novel mechanisms 

Plenary talk: Prof. Joe Marsh (Professor of Computational Protein Biology, Edinburgh University)

 

Day 4 – Friday 4th September 09:00 – 15:00 

Functional validation of variant effects led by the Functional Genomics Initiative 

Plenary talk: To be announced 

  • Overview of the UK Functional Genomics Initiative 
  • Functional validation methods 
  • Insights from large scale function validation 

 

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, see marked on the below campus map)

– Breakfast

– WIFI included

 

By signing up for this course, 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.

For any informal enquiries please contact: [email protected]

 

Organising Committee:

Dr Gareth Hawkes (MRC Career Development Fellow & Lecturer in Health Data Science)

Prof Michael Weedon (Professor of Human Genetics)

Prof Caroline Wright (Professor of Genomic Medicine)

Prof Jonathan Mill (Professor of Epigenomics)

Dr Robin Beaumont (NIHR BRC Fellow & Senior Lecturer)

Mr Stuart Cannon

Mr Harry Wright

Dr Kartik Chundru

Mr Ollie Smail

Dr Marina Vabistsevits

Starr Young

Paul Kainth

 

Cancellation policy:

If for any reason, you need to cancel a booked place on this workshop, a refund may be issued provided that cancellation notification must be received by Monday, June 22nd, 2026. Cancellations made after this date will not be eligible for a refund and will require full payment.

 

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