Lead: NHS Central & South GMS Alliance
The overall aim of this collaborative project is to pave the way for the implementation of RNA-based and long-read DNA sequencing diagnostic services in the NHS.
RNA sequencing will enhance genomic diagnostics and will build on collaborations with affiliated Universities and Oxford Nanapore Technologies.
Case, tissue, and sample preparation optimisation and guidance will all be required to increase the diagnostic yield which is one of the intended benefits.
This demonstrates how the NHS Genomic Medicine Service is harnessing the latest cutting-edge technology to provide the most accurate and timely diagnoses for rare conditions.