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

Project Code

MRCPHS25Ex Frontini

Research Theme

Population Health Sciences

Project Summary Download

Summary

Comprehensive genetic analysis using whole genome sequencing (WGS) still fails to identify the genetic cause of diseases in about 50% of patients with rare diseases. To increase this yield, the NIHR BioResource for Rare Disorders launched the RNA phenotyping initiative, which combines RNA-sequencing and proteomic data with WGS for 1000 patients with rare diseases. This PhD project will develop new approaches to integrate these data to identify new causes of disease.

Lead Supervisor

Dr Mattia Frontini

Lead Supervisor Email

m.frontini@exeter.ac.uk

University Affiliation

Exeter