Inside Precision Medicine November 3, 2023
Oxford Nanopore and Genomics England are teaming up to sequence up to 7,500 samples from people with a range of genetic or suspected genetic disorders to improve diagnostic outcomes in rare diseases. Building on Genomics England’s landmark 100,000 Genomes Project, this effort also aims to develop an accredited lab workflow and data analysis pipelines for clinical use of human whole genome sequence data.
“The combination of very high single-molecule accuracy with the ability to reach all parts of the genome and characterize all types of genetic variation, mean that nanopore sequencing can deliver comprehensive whole genome analysis and will reveal that what’s missing matters,” said Gordon Sanghera, CEO, Oxford Nanopore Technologies.
The study will use nanopore whole genome sequencing...
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