Key points from article :
Oxford Nanopore and Genomics England are partnering to sequence 7,500 samples from people with rare genetic disorders.
The goal is to improve diagnostic outcomes and develop accredited lab workflows for clinical use of whole genome sequence data.
Nanopore whole genome sequencing will be used to uncover new diagnoses, finalise genetic characterisation, and identify missed variants.
The project is part of a wider multiomic study to support understanding of multiomic research in rare cases.
The data will be stored in the National Genomic Research Library, creating the world's largest dataset with genetic and epigenetic profiling for rare disease.
Oxford Nanopore's technology allows for characterisation of more genetic variation than alternative sequencing methods.
