A major breakthrough in genome sequencing could help medical experts diagnose cancers and rare diseases faster than ever before, it was announced yesterday.
Research published by the University of Nottingham in the new edition of Nature Biotechnology shows that it is possible to selectively sequence fragments of DNA fast and more cheaply than before, without searching through DNA strands that are not relevant.
Project leader Professor Matt Loose, of the DeepSeq Sequencing Facility in the School of Life Sciences at the University, said this could have major implications in how genetic diseases are understood and diagnosed.
“This breakthrough will enable us to look at a range of applications, such as rapidly searching fragments of the human genome to find evidence of genetic conditions or changes which may lead to illness such as cancer – which would have major implications for diagnosis,” he said.
“We are already seeing people using the method to identify the underlying causes for diseases in a host of different individuals for the first time.”
The study team was able to rapidly scan human genomes and detect genetic abnormalities on the portable DNA sequencer MinION and located a change in the DNA responsible for a specific type of cancer in less than 15 hours.
They went on to develop a new selective method, called ReadFish, which allows the DNA sequencer to select just those regions of the human genome of interest for a specific question, using only a single sequencing run.
Lead author Alexander Payne said: “Having truly adaptive sequencing, that can respond as the experiment progresses, brings lots of exciting opportunities for customising and tuning your sequencing for the question at hand. I am really looking forward to seeing how ReadFish is used by the nanopore community.”
Gordon Sanghera, CEO of Oxford Nanopore, makers of the real-time, portable sequencing technology on which this work was completed, added that the potential impact “could be profound”.
The latest study builds on the team’s 2016 research, in which they initially demonstrated the novel technique for highly selective sequencing. This method used real-time nanopore sequencing and enabled, for the first time, people to analyse only DNA strands that contain pre-determined signatures of interest.
Payne A, Holmes N, Clarke T et al. Readfish enables targeted nanopore sequencing of gigabase-sized genomes. Nature Biotechnology 30 November 2020; doi: 10.1038/s41587-020-00746-x.
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