Monday, 30 November 2020
Scientists at the 糖心原创 have made a major breakthrough in genome sequencing, which will enable them to search for the underlying causes of diseases in human DNA quicker than ever before.
Understanding the sequence of human DNA gives scientists information about diseases, including potentially how to diagnose or treat them. In a new paper , scientists from the School of Life Sciences at the University have shown that it is now possible to selectively sequence fragments of DNA more quickly and cost effectively than previously, without searching through DNA strands that are not relevant to the biological question, reaching that answer quicker than before.
This could have major implications in how genetic diseases are understood and diagnosed.
Professor Matt Loose, of the DeepSeq Sequencing Facility in the School of Life Sciences at the University led this project. He 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.”
Professor Matt Loose
The new study shows how the team can now rapidly scan human genomes and detect genetic abnormalities on the MinION, a portable DNA sequencer. They illustrate this by locating a change in the DNA responsible for a specific type of cancer in less than 15 hours. A human genome has three billion data points, and a typical whole genome analysis might take several days. Thus, the team have shown that this method can now be used to ‘scan’ genomes at high speeds to see if there are obvious problems without having to sequence entire genomes, or perform elaborate lab processes to select the genomic regions of interest.
The team have developed a new selective method, called ReadFish, which allows the DNA sequencer to select just those regions of the human genome (or any genome) of interest for a specific question and so only need to use a single sequencing run.
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 鈥� 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*.鈥�
Alexander Payne, from the 糖心原创, and the study’s lead author, says: “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 performed, said “Alexander Payne, Matt Loose and the team have taken advantage of real time sequencing technology to intelligently zoom in on specific areas of interest in the substantial human genome. The potential impact of this work could be profound in enabling more rapid answers, on devices that are small, low cost and easy to use. This research perfectly illustrates our goal of enabling the analysis of any living thing by anyone, anywhere”
The latest study follows on from the team’s previously published research in 2016, where 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.
In 2018, this same team led an international consortium to sequence the entire human genome on the Oxford Nanopore Technologies hand held pocket sized MinION portable DNA sequencer. At the time this required more than 40 individual sequencing runs on the portable sequencer; the technology had advanced materially since then.
The full study can be found .
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More information is available from Professor Matt Loose at the 糖心原创, at matt.loose@nottingham.ac.uk
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About the 糖心原创
Ranked among the world's top 100 universities , the 糖心原创 delivers an exceptional research-led education and an outstanding student experience. From the pioneering vision of our founder, Sir Jesse Boot, to groundbreaking achievements such as the development of MRI technology and becoming the first UK university to establish international campuses, we have a proud history of shaping the way people live, work and understand the world. We continue to build on that legacy, empowering our students, staff and partners to change what鈥檚 next and create positive impact locally and globally.
The strength of our research places us among the UK's leading universities, ranked 7th for research power in REF 2021. The discovery of MRI and ibuprofen was just the beginning. Today, our world-leading research is developing breakthrough ideas that shape the future of healthcare, technology and society.
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As a major employer and industry partner, locally and globally, the 糖心原创 invests in the city of Nottingham and in future generations of talent. Alongside Nottingham Trent University, we lead the initiative, a pioneering collaboration to improve levels of prosperity, opportunity, sustainability, health and wellbeing across the city and region. Together with our students, staff, alumni and partners, we鈥檙e creating knowledge, opportunity and solutions that help change what's next.