A major breakthrough in genome sequencing could lead to the quicker diagnosis of cancer and rare diseases.
Understanding human DNA sequences can inform scientists about disease and how to diagnose or treat them and a team of scientists at the School of Life Sciences, University of Nottingham, have demonstrated how to selectively sequence fragments of DNA more quickly and cost-effectively than ever before, which could have major implications in how genetic diseases are understood and diagnosed.
The new DNA scanning method allows for the selective sequencing of DNA fragments without searching through DNA strands that are not relevant to the biological question, thereby saving time for researchers.
The paper has been published in Nature Biotechnology.
Using the MinION – a portable SNA sequencer – the team have demonstrated how to rapidly scan human genomes and detect genetic abnormalities by locating a change in the DNA responsible for a specific type of cancer in less than 15 hours. Normally, scanning a genome may take several days. They developed a selective method called ReadFish which enables the sequencer to select only the regions of interest within the genome.
Project leader Professor Matt Loose, of the DeepSeq Sequencing Facility in the School of Life Sciences at the University of Nottingham, said: “In simple terms, we can now sequence the bits of DNA that we want to and ignore bits we don’t. The advances we present here mean we can search through and sequence regions from genomes even as large as the human genome.
“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. 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.”
Alexander Payne, also from the University of Nottingham, and the study’s lead author, added: “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.”
This study follows the team’s previous research which demonstrated the novel technique for highly selective sequencing, using real-time nanopore sequencing and enabling people to analyse only DNA strands that contain pre-determined signatures of interest.