spacer
home > news > detailed info
INDUSTRY NEWS AND PRESS RELEASES

Wellcome Trust Centre for Human Genetics and Genomics plc first to sequence multiple human genomes using hand-held nanopore technology

The Wellcome Trust Centre for Human Genetics

Demonstrates potential for wide-scale whole-genome sequencing in humans using nanopore approaches

Oxford, UK, December 2, 2016: 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.”
phone +44 (0)1865 287500
email info@well.ox.ac.uk
web www.well.ox.ac.uk
email The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, OX3 7BN, United Kingdom
 
Print this page
Send to a friend
   
spacer
News and Press Releases

WORLD’S FIRST PCM CARGO COVER

A British team of scientists at TLX Cargo Ltd have invented the worlds Cargo Cover/Thermal blanket that incorporates Phase Change Material (PCM) into it`s structure, solved the problem of hot lane temperature excursions on the tarmac.
More info >>


White Papers

Pharmacovigilance and Risk Management Information in Centralised Applications in the EU

United BioSource Corporation (UBC)

Getting a new medication approved for the EU market through the centralised procedure can be complex and needs expertise. The new EU pharmacovigilance legislation (Good Vigilance Practice, GVP) is now in effect and applicants need to be fully compliant. It is critical to have a thorough understanding of the regulatory process and requirements, and the expectations with regards to the pharmacovigilance system and the risk management plan. Ensuring consistency and an appropriate level of detail in the documentation submitted as part of the approval process will help prevent unnecessary delays.
More info >>

Industry Events

BioTrinity 2018

23-25 April 2018, Novotel London West in Hammersmith

BioTrinity 2018 is taking place from 23-25 April at the Novotel London West in Hammersmith. Now in its 12th year, BioTrinity remains the leading life sciences biopartnering and investment conference in Europe, and is a must attend event for R&D companies, TTO’s and academia who are looking to meet, collaborate, partner and seek funding from Big Pharma, Investors and Associated Industry companies.
More info >>

 
©2000-2011 Samedan Ltd.
Add to favourites

Print this page

Send to a friend
Privacy statement