Genetics and Genomics
Less than 50% of individuals affected by rare diseases receive a genetic diagnosis using current diagnostic standard testing. This project aims to assess the utility of long-read whole genome sequencing for increasing diagnostic yield and enhancing discovery studies.
The project will use the PromethION, NovaSeq, and PacBio Vega sequencing platforms at the Exeter Genomics Laboratory. Samples will be selected from families enrolled in Exeter’s rare disease translational genomics research programme.
This project will deliver long-lasting benefits for individuals/families affected by rare diseases, as well as for NHS services and the wider genomics ecosystem. By integrating LR-WGS into the investigation of unresolved rare disease cases, it will increase diagnostic yield, enabling clearer prognoses and improved clinical management. Importantly, the project will generate practical, evidence-based recommendations to guide NHS adoption, specifying the clinical scenarios in which LR-WGS offers the greatest value and the technology platforms best suited for routine implementation. This will accelerate the translation of advanced genomic technologies into standard care. Alongside our collaboration with Genomics England and with the MRC Functional Genomics Initiative, this project is perfectly positioned to catalyse the integration of LR-WGS into NHS diagnostic pathways.
NIHR Exeter BRC.
Dr Joseph Leslie (Lead) Dr Andrew Parish, Prof Emma Baple.
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