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Health and Medicine

Handheld Device Allows Human Genome Sequencing Like Never Before

author

Jonathan O'Callaghan

Senior Staff Writer

clockJan 30 2018, 15:39 UTC

The MinION device. Oxford Nanopore Technologies

Scientists say they have used a pocket-sized device to sequence the human genome, opening up fascinating new possibilities for future research.

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A study describing the findings, conducted by an international team of researchers, is published in Nature Biotechnology.

The device is called the MinION DNA sequencer, developed by Oxford Nanopore Technologies in the UK. It was made available to researchers in 2014, and has now been put to use.

Essentially the technology works by sending long strands of DNA through a small hole in the device, known as nanopore sequencing. It then uses an electrical signal to read the DNA sequence of the four bases, known as A, C, G, and T.

"The ability to get long reads is one of the strengths of this technology, and as a result, this is the most contiguous human genome assembly ever done," said co-first author Miten Jain from the University of California, Santa Cruz in a statement.

The small device opens up numerous possibilities. Oxford Nanopore Technologies

In this study, the team were able to sequence the human genome in fragments much larger than usual. They managed to read 1,204,840 bases, which is 8,000 times longer than a normal sequencing read.

About 8 percent of the human genome has not yet been assembled, due to it containing long and repetitive sequences. Being able to read the region in a few long reads could help us cross the finish line.

“This is a landmark for genomics. The long reads that are possible with nanopore sequencing will provide us with a much clearer picture of the overall structure and organization of the genome than ever before,” said corresponding author Matt Loose of the University of Nottingham in the statement.

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MinION has already been in use by researchers, even on the International Space Station (ISS). Now scientists can do genome sequencing without large amounts of money and expensive laboratories, thanks to the cheapness and ease of the device.

"That gives us a really exciting opportunity to start having genome sequencing as a routine tool, perhaps something people can do in their own home," Professor Nicholas Loman, a co-author on the study from the University of Birmingham in the UK, told BBC News.

New Scientist notes this sequencing method is not as accurate as others, but it is improving. The portability aspect can also help biologists working in the field, such as those investigating Ebola outbreaks.


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