Human genome sequenced by handheld device with record accuracy

30 Jan 2018609 Views

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Scientists who have developed a handheld genetic sequencing device say it could soon be completed in the time it takes to make a cup of tea.

Just like the shrinking of the first generation of computers to something that can fit into the size of your hand, the technology used to sequence the human genome is rapidly shrinking and becoming more powerful.

Where it once cost $2.7bn and required the world’s most advanced hardware, a team of researchers has just demonstrated a portable device – no bigger than a smartphone – that can do it in a fraction of the time, and more accurately than anything preceding it.

According to AFP (via Phys.org), the team documented its findings in a paper published to Nature Biotechnology, revealing that the device is the first to read long, unbroken strands of DNA, yielding a final result that is 99.88pc accurate.

This, the team added, brings us closer to the day that your local doctor could scan your genome during a regular check-up as well as blood work.

In practice, this could mean cancer could be detected in the blood or tumours discovered before they would be visible through more traditional scans.

“The process of assembling a genome is like piecing together a jigsaw puzzle,” said the study’s co-author Nicholas Loman from the University of Birmingham. “The ability to produce extremely long sequencing reads is like finding very large pieces of the puzzle.”

As easy as making a cup of tea

The sequencing was achieved by a dozen researchers using a number of devices called MinIONs – developed by a company called Oxford Nanopore – over the course of three weeks and at a cost of just a few thousand dollars.

The device works by passing long strands of DNA through a tiny hole called a nanopore, revealing it like never before. Other DNA sequencing methods break up the genetic code into shorter strands, leading to the potential for missing data and inaccuracies.

If the MinIONs sound familiar, it is because they are contributing to a constantly evolving technology that has already been used in the wild to sequence plant DNA in just a few hours.

The team predicted that in just a matter of years, the process of sequencing the human genome could be utterly routine in nature, with co-author Andrew Beggs saying it “will be a ubiquitous as boiling a kettle or making a cup of tea”.

Colm Gorey is a journalist with Siliconrepublic.com

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