Investigation of structural variants in clinical whole genome sequencing data leading to new genetic diagnoses

For our next talk, in the BDI/CHG (gen)omics Seminar series we will be hearing from Prof Jenny Taylor, Programme Director; Dr Alistair Pagnamenta, Post-doctoral Researcher; Centre for Human Genetics, University of Oxford and Oxford NIHR Biomedical Research Centre and Jing Yu, Senior Computational Geneticist, Centre of Excellence, Novo Nordisk Research Centre, Oxford. We’re delighted to Prof Taylor, Dr Pagnamenta and Jing Yu in what promises to be a great talk!

Date: 30 April 2024
Time: 9:30 -10:30 am
Location: Big Data Institute Seminar Room 0

Abstract: Clinical whole genome sequencing has revolutionised the diagnosis of rare genetic disorders. However, the diagnostic yield from large-scale programmes such as the Genomics England (GEL) 100,000 Genomes Project (100kGP) remains modest at approx. 25%, suggesting that more complex variant types, such as structural variants, and those residing outside the coding regions, need to be interrogated.

We have used a range of whole genome sequencing data sets to explore such variants and highlight some of our results to date, including inversions, which have had a significant clinical impact for the families involved.

Prof Jenny Taylor – Jenny Taylor is Professor of Translational Genomics at University of Oxford and Co-Theme Leader of the Oxford Biomedical Research Centre’s Genomic Medicine Theme, a translational programme funded by the UK’s National Institute of Health Research based at the University of Oxford’s Wellcome Centre for Human Genetics. Jenny’s research focuses on the application of whole genome sequencing (WGS) to the diagnosis of rare genetic diseases and cancer, and investigation of novel disease genes emerging, applying a range of functional approaches. She is also involved in a major new initiative using genomics-led approaches to inform development of nucleic acid therapeutics for rare disease patients.

Dr Alistair Pagnamenta: Alistair studied Natural Sciences at Cambridge and went on to do a PhD on mitochondrial disorders at UCL. Since 2010 he has worked for the Oxford Biomedical Research Centre and has been involved with a wide range of projects including an MRC funded study into the genetics of musculoskeletal disorders. He has been involved in several disease-gene discovery projects, primarily using data from the WGS500/DDD studies and more recently from the 100kGP. Current interests include using WGS to detect inversions, translocations and cryptic splice variants.

Jing Yu is the Senior Computational Geneticist, Centre of Excellence, Novo Nordisk Research Centre Oxford. Jing was trained in bacterial genetics but later moved on to work on human genetics using whole exome and whole genome sequencing. I led the whole genome sequencing analysis in the UK Inherited Retinal Dystrophy consortium and later embarked on the Genomics England 100k genomes project, to leverage its large scale whole genome sequencing data to find more diagnoses and molecular mechanisms underlying human disorders. And this is when I developed SVRare that helped with hundreds of diagnoses in Genomics England by looking at structural variants.
Hybrid Option:
Please note that these meetings are closed meetings and only open to members of the University of Oxford to encourage sharing of new and unpublished data. Please respect our speakers and do not share the link with anyone outside of the university. The aim of these seminars is to increase interaction between people working in Genomics across the University so we encourage in person attendance wherever possible.

Microsoft Teams meeting –
Meeting ID: 383 603 468 89
Passcode: q9DBxW
If you wish to know more or receive information related to trainings and events at BDI, please subscribe by emailing You’ll then receive an email from SYMPA and once you reply you’ll be on the list!