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Genomics England, Oxford Nanopore Partner for Project to Diagnose Unsolved Rare Disease Cases

NEW YORK – Oxford Nanopore Technologies on Wednesday announced a research partnership with Genomics England to help resolve undiagnosed rare disease cases.

Financial deals of the project were not disclosed.

As part of the project, the collaborators will analyze up to 7,500 samples from participants of the 100,000 Genomes Project with a range of genetic or suspected genetic disorders using nanopore sequencing.

The project will be part of a multiomic study led by Genomics England that will include genomics, transcriptomic, epigenetic, proteomic, and metabolomic analyses of samples from rare disease patients that have been difficult to solve.

According to Oxford Nanopore, the study has three objectives: to uncover new diagnoses in participants who have yet to be diagnosed, to finalize genetic characterization and heritability within families for partially diagnosed participants, and to identify variants that were missed by short-read technologies.

Furthermore, the program aims 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," the company said.

Whole-genome nanopore sequencing will be performed on all samples, and a subset will also have full-length RNA sequencing done. The analysis will include both genetic variants and DNA methylation. The sample cohort will include both singleton samples and duo/trio families, Oxford Nanopore said.

Eurofins Genomics will be the service provider for the sequencing, using Oxford Nanopore’s high-throughput PromethIon 48 sequencer and the latest Q20+ sequencing chemistry, comprising Kit 14 and R10.4.1 flow cells.

Once the project is complete, the data will be stored in the National Genomic Research Library, the company noted.

"We’re excited to work with Oxford Nanopore to explore the potential for long-read and epigenetic sequencing to improve our understanding of the causes of rare conditions and help us to build the world’s largest dataset with comprehensive genomic profiling to support diagnosis for patients and families affected by rare genetic conditions," Genomics England CSO Matt Brown said in a statement.