Unravelling the full spectrum of pathogenic variation using Saturation Genome Editing
For our next talk, in the BDI/CHG (gen)omics Seminar series, on 5th March, 9:30 am-10:30 am at the Big Data Institute (BDI), we will be hearing from Dr Greg Findlay, Group Leader, Francis Crick Institute, Genome Function Laboratory. We’re delighted to host Dr Findlay in what promises to be a great talk!

Date: 5 March
Time: 9:30-10:30 am
Title: Unravelling the full spectrum of pathogenic variation using Saturation Genome Editing
Location: BDI Seminar Room 1

Our incomplete understanding of how rare genetic variants contribute to disease phenotypes substantially limits the clinical utility of genomic data. To address this challenge, we developed Saturation Genome Editing (SGE), a CRISPR-based method to assay all possible single nucleotide variants across targeted genomic regions. We’ve used SGE to functionally characterise over 10,000 variants across tumour suppressor genes such as BRCA1 and VHL. The resulting variant effect maps reveal loss-of-function variants acting via diverse mechanisms and predict human disease risk with high accuracy. Ongoing work in the Findlay lab involves scaling SGE and related genomic technologies to more cell types, assays, and genes, towards the ultimate goal of being able to predict the phenotypic consequences of any human variant.

Dr. Greg Findlay is the group leader of the Francis Crick Institute’s Genome Function Laboratory. He received his bachelor’s degree in Biology from Carleton College before completing MD/PhD training at the University of Washington in Seattle. Working with Dr. Jay Shendure, Greg led the development of new genomics techniques, including Saturation Genome Editing, GESTALT, and ScanDel. Greg started his independent group at the Crick in autumn of 2020, where his lab develops and employs high-throughput methods for characterising human genetic variation.
All members of the University are welcome to join, please let reception at BDI know you’re here for the seminar and sign-in. We hope you can join us!

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As a reminder, the gen)omics seminar series runs every other Tuesday morning and is intended to increase interaction between individuals working in genomics across Oxford. We encourage in-person attendance where possible. There is time for discussion over, tea, coffee and pastries after the talks.
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Date: 5 March 2024, 9:30 (Tuesday, 8th week, Hilary 2024)
Venue: Big Data Institute, Old Road Campus OX3 7LF
Venue Details: Seminar room 1
Speaker: Dr Greg Findlay
Organising department: Big Data Institute (NDPH)
Organisers: Sumeeta Maheshwari (University of Oxford), Nicola Whiffin (University of Oxford), Duncan Palmer (University of Oxford)
Organiser contact email address: sumeeta.maheshwari@ndph.ox.ac.uk
Part of: BDI/CHG Genomics Seminar Series
Booking required?: Not required
Cost: free
Audience: Members of the University only
Editor: Sumeeta Maheshwari