Project Code
MRCPHS24Ex Frontini
Research Theme
Population Health Sciences
Full Project Description
Please download the below document for a full project description and to see the full supervisory team.
Summary
The use of Whole-Genome Sequencing increased the diagnostic yield for rare diseases. However, even WGS fails to identify the genetic cause in about 50% of patients. To increase this yield, the NIHR National BioResource launched the RNA phenotyping initiative which adds RNA-seq and proteomic to WGS. The project aims to develop approaches for integrating these data to discover new causes of disease in a unique cohort of a thousand rare disease patients.
Lead Supervisor
Professor Mattia Frontini
Lead Supervisor Email
m.frontini@exeter.ac.uk
University Affiliation
Exeter