Oxford University’s Wellcome Trust Center for Human Genetics (WTCHG) and Genomics plc, Oxford, UK, has announced the first sequencing and analysis of multiple human genomes using nanopore technology.
Researchers at the WTCHG and Genomics plc used the MinIon sequencer developed by Oxford Nanopore Technologies. The portable, handheld device is powered by a laptop computer to which it connects via a USB port. While nanopore sequencing has been available for 2 years, recent upgrades to the technology have now made it possible for researchers to conduct larger-scale studies such as sequencing complete human genomes using multiple MinIons.
“The WTCHG were one of the pioneers of whole-genome sequencing in clinical medicine,” says Peter Donnelly, FRS, FMedSci, director of the WTCHG and a founder and director of Genomics plc. “We are delighted to be able to work with nanopore technology to sequence and analyze a reference and a clinical human genome, and to explore the potential for large-scale human sequencing using nanopore approaches.”
A key strength of nanopore sequencing is that reads can be much longer than is possible with other scalable sequencing technologies. Longer reads enable researchers to obtain sequence data from certain biologically important regions of the genome, and make it easier to detect large structural changes in individual genomes.
“It is a significant breakthrough to sequence multiple human genomes with nanopore technology,” says Rory Bowden, PhD, deputy head of high-throughput genomics at the WTCHG, and one of the leaders of the project. “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.”
“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,” adds Michael Simpson, PhD, cohead of science at Genomics plc, and another project leader. “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.”
The WTCHG and Genomics team sequenced a standard human reference sample, NA12878. In addition, in collaboration with the NIHR Oxford Biomedical Research Center, they sequenced the DNA from a clinical patient.