Unmasking the Genome: Integrating WGS, AI and Functional Genomics

This programme brings together expertise from Google DeepMind, leaders in statistical and population genomics, the University of Exeter, and the UK Human Functional Genomics Initiative to offer a cohesive view of modern genome interpretation – from large-scale sequencing analysis through to functional validation.

The integration of AI-based variant interpretation, population-scale genetics, and experimental follow-up in a single, immersive course is rare. The workshop is structured to provide depth, interaction, and sustained discussion rather than broad survey coverage.

Why attend?

Whole-genome sequencing is moving fast—and so is machine learning for functional interpretation of genetic variation. This workshop is designed to help you keep pace, by combining expert teaching, practical sessions, and opportunities to connect with researchers working at the forefront of genomics.

You can expect:

• Expert-led, hands-on learning with AlphaGenome and modern WGS workflows
• Practical guidance for handling large-scale sequencing and annotation datasets
• A clear route from computational discovery to functional follow-up
• Built-in networking with speakers, course leaders, and peers

Who this workshop is for

• Postdoctoral researchers
• Senior PhD candidates
• Clinical scientists and computational geneticists
• Early-career principal investigators

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.

The course assumes prior exposure to genomic data analysis and is structured accordingly.

Programme Overview

Across four days of seminars and workshops, topics include:

• Whole genome sequencing: technologies, variant calling, QC
• Copy number and complex structural variation
• Variant annotation with DeepMind-led sessions (including AlphaGenome and related tools)
• Population-scale genetics and aggregate testing approaches
• Rare disease: pathogenicity, penetrance, expressivity, and discovery strategies
• Translating findings into functional validation with the UK Functional Genomics Initiative

Agenda highlights

(Subject to change)

Day 1 (Tue 1 Sept, 12:00 – 18:00)
Introduction to WGS, variant calling, and quality control (opening address by Prof. Caroline Wright)

Day 2 (Wed 2 Sept, 09:00 – 18:00)
DeepMind-led variant annotation methodologies, including AlphaGenome and the Alpha-suite (plenary talk: Amanda Stafford, Google DeepMind)

Day 3 (Thu 3 Sept, 09:00 – 18:00)
Using WGS to identify causes of rare and complex disease (includes plenaries from Prof. Xihong Lin and Prof. Joe Marsh)

Day 4 (Fri 4 Sept, 09:00 – 16:00)
Functional validation of variant effects led by the UK Human Functional Genomics Initiative (including talk from Prof. Ewan Birney)

Speakers

The programme is led by investigators with active roles in national genomics initiatives and large-scale sequencing efforts.

Guest talks include:

• Ewan Birney (EBI)
• Joe Marsh (University of Edinburgh)
• Xihong Lin (Harvard T.H. Chan School of Public Health)
• Amanda Stafford (Google DeepMind)
• Caroline Wright (University of Exeter)
• Jonathan Mill (UK Human Functional Genomics Initiative, University of Exeter)

More to be announced

Included in your course place

• Morning tea/coffee, and pastries each day
• Lunch each day
• Networking dinner for all delegates and speakers on the first evening (Tuesday 1 September)
• Gala dinner for all delegates and speakers on the final evening (Thursday 3 September)

Delegates have the option to include the on-site accommodation package which includes:

• 3 nights bed and breakfast on-campus accommodation (ensuite double bedroom) at Holland Hall (Tuesday/Wednesday/Thursday night) More details about Holland Hall Here
• Wi-Fi

Cancellation policy (please read)

Refunds may be issued only if cancellation is received by Monday 22 June 2026. Cancellations after this date are not eligible for a refund and will require full payment.