Oxford Nanopore and Genomics England Announce New Strategic Research Project to Resolve Undiagnosed Rare Disease Cases

On November 1, 2023, it was announced that Oxford Nanopore sequencing technology will be used in a pioneering new collaboration with Genomics England, to sequence as many as 7,500 samples from participants of the landmark 100,000 Genomes Project with a range of genetic or suspected genetic disorders. The program aims to improve diagnostic outcomes for participants with rare conditions, including those who have not yet received a diagnosis through short-read-only sequencing methods. The program will also further aim to develop an accredited lab workflow and data analysis pipelines to support the clinical use of human whole genome sequence data generated using nanopore sequencing. [Editor’s Note: The ground-breaking 100,000 Genomes Project, led by Genomics England and NHS England, was established in 2013 to sequence 100,000 whole genomes from NHS patients affected by rare conditions and cancer.]

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