Integrative analysis of whole genomes and transcriptomes from multiple cell types in rare disease patients

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.


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

University Affiliation