Harnessing the 100,000 Genomes Project
Three 20-minute presentations illustrating the scientific work that can be done with the 100,000 Genomes Project (Genomics England).
This includes a brief description of the Oxford GEL user group and the meetings that are planned across the year.
1400-1410 Matteo Ferla — What is Genomics England and the Oxford GEL User Group
1410-1430 Becky Tooze — Increasing the diagnostic yield for craniosynostosis using data from the 100,000 Genomes Project
1430-1335 Q&A
1435-1455 Alistair Pagnamenta — An ancestral 10bp repeat expansion in VWA1 causes recessive spinal muscular atrophy
1455-1500 Q&A
Date:
8 July 2020, 14:00 (Wednesday, 11th week, Trinity 2020)
Venue:
Zoom link to be sent to attendees
Speakers:
Dr Matteo Ferla (University of Oxford),
Dr Alistair Pagnamenta (University of Oxford),
Rebecca Tooze (University of Oxford)
Organiser:
Dr Matteo Ferla (University of Oxford)
Organiser contact email address:
matteo@well.ox.ac.uk
Host:
Dr Matteo Ferla (University of Oxford)
Booking required?:
Required
Booking url:
https://forms.office.com/Pages/ResponsePage.aspx?id=G96VzPWXk0-0uv5ouFLPkeoFbQy2PcJFmpXVP6rJxH5UN0g4U0JERUk5MlhWS1oyV0tUNzZON0ZCSS4u
Booking email:
matteo@well.ox.ac.uk
Cost:
n/a
Audience:
Members of the University only
Editor:
Donna Seymour
