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Demonstrates potential for wide-scale whole-genome sequencing in humans using nanopore approaches
Oxford University’s Wellcome Trust Centre for Human Genetics (WTCHG) and the leading genome analytics company Genomics plc today announced the first sequencing and analysis of multiple human genomes using nanopore technology. The announcement, made on Thursday at the Oxford Nanopore Community Meeting in New York City, marks a major breakthrough in sequencing technology in opening up the potential of wide-scale whole-genome sequencing in humans using nanopore approaches.
Today’s announcement raises the possibility of a major change to both the economics and the science of DNA sequencing. Researchers at the WTCHG and Genomics plc used the MinION sequencer developed by Oxford Nanopore Technologies. The portable MinION is a hand-held device about the size of a Mars bar, and is powered by a laptop computer to which it connects via a USB port. It is available for $1,000 plus the cost of consumables. While nanopore sequencing has been available for two years, it has previously only been practicable to apply it to relatively small genomes or regions of DNA, such as the much smaller genomes of viruses and bacteria. Recent upgrades to the technology have now made it possible for researchers to conduct larger-scale studies such as sequencing complete human genomes by using multiple MinIONs.
A key strength of nanopore sequencing is that reads can be much longer than is possible with other scalable sequencing technologies. Longer reads offer significant advantages in human genome sequencing, enabling researchers to obtain good sequence data from certain biologically important regions of the genome which are difficult to study using existing sequencing technologies. The long reads also appear to make it easier to detect large structural changes in individual genomes.
The WTCHG and Genomics team sequenced a standard human reference sample, NA12878. In addition, in collaboration with the NIHR Oxford Biomedical Research Centre, they sequenced the DNA from a clinical patient.
Dr Rory Bowden, Deputy Head of High-Throughput Genomics at the WTCHG, and one of the leaders of the project, said: “It is a significant breakthrough to sequence multiple human genomes with nanopore technology. Moving forward, the idea that there will be alternative technologies with new properties in this space will be very appealing to researchers and to clinical geneticists.”
Professor Michael Simpson, Co-Head of Science at Genomics plc, another project leader, said: “It is particularly encouraging to show that nanopore sequencing works for routine clinical samples, where the amount and quality of DNA available for sequencing may be constrained. Further, in the clinical sample, the long reads provided by nanopore technology were critical in confirming the genetic changes responsible for the patient’s condition.”
Professor Peter Donnelly, Director of the WTCHG and a Founder and Director of Genomics plc, said: “The WTCHG were one of the pioneers of whole-genome sequencing in clinical medicine. We are delighted to be able to work with nanopore technology to sequence and analyse a reference and a clinical human genome, and to explore the potential for large-scale human sequencing using nanopore approaches.”
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About the Wellcome Trust Centre for Human Genetics www.well.ox.ac.uk
The Wellcome Trust Centre for Human Genetics is a large interdisciplinary research centre comprising 400 scientists in ~45 research groups, within the University of Oxford. It is one of the leading institutes, globally, in human genetics. Since its founding 21 years ago, the WTCHG has played a pioneering role in the progress and success of human disease genetics. The Centre’s focus is the development and implementation of novel approaches to exploit human genetics and uncover disease biology so as to improve healthcare.
About Genomics plc www.genomicsplc.com
Genomics plc is one of the leading companies in the genome analytics space. It combines world-leading expertise in statistical genetics and data mining with a unique integrated database linking genotypes and phenotypes, in order to learn about human biology in humans. Through collaborations with pharmaceutical companies such as Biogen, Eisai, Merck and Vertex, it applies this approach in drug development, where genetic analysis of targets and biological pathways can materially de-risk development programmes. The company, based in Oxford and founded by world-leading academics from the Wellcome Trust for Human Genetics and Oxford’s Big Data Institute, is also Analytical Partner to Genomics England’s GENE Consortium (Genomics Expert Network for Enterprises) which comprises pharmaceutical companies participating in the 100,000 Genomes Project. The Company is supported by some of the UK’s largest investors in life sciences.
About the NIHR Oxford Biomedical Research Centre http://oxfordbrc.nihr.ac.uk/
The NIHR Biomedical Research Centre, Oxford (OxBRC) is based at the Oxford University Hospitals NHS Foundation Trust and run in partnership with the University of Oxford. It was one of five centres funded by the National Institute for Health Research (NIHR) in 2007 through a competitively awarded grant of £57m over five years. In April 2012, as a recognition for its outstanding contribution to healthcare research it was awarded £95.5m to 2017 and in September 2016 was awarded £113.7m for 2017 to 2022 to support translational research. Oxford Biomedical Research Centre genomics researchers are currently sequencing 500 clinical genomes, one being the clinical sequence described herein, as part of a programme funded by the Health Innovation Challenge Fund http://www.hicfund.org.uk/.
Project Funding. The nanopore sequencing described above was funded by the Wellcome Trust.