Our Research Projects

Mitochondrial disease diagnosis without muscle biopsy

This is a project which is currently making use of HPC facilities at Newcastle University. It is active.

Project Contacts

For further information about this project, please contact:


Project Description

Analysis of bioinformatics data; project focuses on whole exome sequencing of child and parent samples, run as a trio unit. Sequencing will be performed by NU Genomics Core. All samples will be pseudonymised for sequencing and analysis. No identifiable data will be stored or pass through rocket.


Software or Compute Methods

NGS (Trio WES; pac bio long read) Projects. Including QC, alignment, variant annotation. Tools including VEP, GATK, DROP.