Oxford Nanopore Technologies and UMC Utrecht collaborate on 1,000 human genome sequencing project

The nanopore sequencing pilot programme aims to expand our understanding of the causes of rare genetic disease and cancer and evaluate potential for future routine clinical use.

Oxford Nanopore Technologies is entering into a strategic collaboration with UMC Utrecht, one of the leading academic medical centres in the Netherlands, that will aim to explore the genetic underpinnings of rare genetic disorders and certain cancers. The two-year initiative will sequence 1,000 human genomes, focusing on creating a single test capable of identifying all methylation, short tandem repeats (STRs), and structural variants (SVs). The project also seeks to demonstrate the benefits of transitioning from exome sequencing to whole genome sequencing (WGS), which will provide richer and more comprehensive genetic data.

'This collaboration with UMC Utrecht exemplifies our determination to push the boundaries of genomic research', said Magali Kemoun, Director of Sales EMEAI South at Oxford Nanopore. 'By integrating our advanced PromethION platform, we aim to not only enhance the capabilities of UMC Utrecht’s research but also contribute valuable data to the global scientific community. The insights gained from this project could pave the way for significant advancements in human genetics and disease research'.

UMC Utrecht’s clinical genetic lab, already a hub for extensive genetic testing, will utilise the PromethION 24 to reduce the number of tests and technologies currently in use - a battery of tests that can be as numerous as 15 in total - focusing on the strengths of nanopore sequencing. The pilot project aims to compare traditional short-read sequencing with Oxford Nanopore’s any-length read sequencing, demonstrating the added value of richer data, particularly in the identification of SVs, methylation patterns, and STRs. Additionally, the project will work towards automating sample preparation to support the hospital’s large throughput needs.

Marcel Nelen, Head Genome Diagnostics Section at UMC Utrecht, said: 'This collaboration will allow us to pursue innovative avenues in clinical genetic testing. A generic long read sequencing workflow as the engine of our genome diagnostics section will greatly help us cope with the growing demand for genetic diagnostics. By reducing the number of tests required to provide answers to the clinical questions asked, we can make a big efficiency gain'.

The project’s outcomes are anticipated to showcase the benefits of comprehensive whole genome sequencing over legacy methods, while demonstrating Oxford Nanopore’s potential in reducing the complexity and cost of utilising multiomic insights in hospital settings.