Our Research Projects

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  3. The Genomic Investigation of Mitochondrial Disorders

The Genomic Investigation of Mitochondrial Disorders

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

Singleton exome data for a cohort of genetically undiagnosed patients with a clinical diagnosis of mitochondrial disease.


Software or Compute Methods

Pipelines focus on alignment of WES data, variant calling, annotation, visualisation and prioritisation.