Oxford Nanopore has partnered with four German research university medical centers to study the use of nanopore-based genome sequencing in rare disease research.
The two-year pilot study will assess the benefits and feasibility of incorporating nanopore-based genome sequencing in German clinical practice. Nanopore sequencing devices pass nucleic acids through protein nanopores and measure the resulting changes to an electrical current. Decoding of the signal reveals the DNA or RNA sequence of the analyzed nucleic acid.
The approach differs from how most sequencing is performed. Equipment sold by Illumina tracks the addition of labeled nucleotides as the DNA chain is copied to reveal the sequence of a nucleic acid.
While widely used, the predominant sequencing technology has limitations. Notably, the equipment is designed to read short fragments of DNA. Sequencing of longer nucleic acids is possible, both through secondary analysis and dedicated long-read devices, but Oxford Nanopore has worked to differentiate its nanopore approach based on its ability to sequence any-length fragments of DNA.
That ability underpins the collaboration with the German medical centers. Using Oxford Nanopore’s PromethION P2 and P24 devices, the centers will try to find different classes of disease-causing variants simultaneously. The assay detects single nucleotide variations, structural variations, and methylation.
In a statement, Bernd Auber, head of the genomics laboratory in the department of human genetics at Hannover Medical School, outlined how using the nanopore devices rather than the short-read sequencers used on an earlier project could improve the understanding of rare diseases.
“Scalable sequencing technology with long-read capabilities has the potential to improve the accuracy and completeness of genomic analysis, uncovering novel disease mechanisms of rare disorders. In critically ill children, for example, phasing of genetic variants using a rapid long read sequencing approach could be very helpful in diagnostics and personalized treatment of pediatric ICU patients,” Auber said.