Handheld device allows for genetic sequencing with record-breaking accuracy
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Researchers have developed a pocket-sized device that can sequence a human genome in minutes and more accurately than any other single sequencing technology.
By the time the human genome had been sequenced successfully for the first time in 2003, the ambitious Human Genome Project had cost its funders $2.7bn (£1.9bn) and taken 13 years to complete. Since then, as the technology required for genetic sequencing has developed, the cost of sequencing human genomes has dropped to just over $1000 (£710) today.
Now, according to a paper published in Nature Biotechnology, the cost and time taken to complete genetic sequencing could be reduced much further using devices known as ‘MinIONs’. The devices were developed by Oxford Nanopore, a biotechnology company.
MinIONs work by passing ultra-long strands of DNA through tiny holes known as nanopores. This means that the handheld device is capable of reading long, unbroken strands of DNA without breaking them up in the process. As this approach does not require the re-assembly of DNA strands to such an extent, it significantly speeds up the process of sequencing and enables more accurate reading.
According to the researchers, the MinIONs allowed for the study of parts of human DNA which had not been studied in such detail before.
“The increased single-molecule read length […] obtained using a MinION nanopore sequencer enabled us to analyse regions of the human genome that were previously intractable with state-of-the-art sequencing methods,” the researchers said.
"Most notably, this milestone in human genomics reinforces the concept that although the human reference genome is thought to be complete, there are still gaps in the assembly that can only be bridged using ultra-long nanopore reads."
According to testing, its results are 99.88 per cent accurate; more accurate than any single sequencing technology so far.
Such a device could make it possible for genome scanning to be completed by a doctor, along with heart rate measurements and blood pressure tests.
While a small minority of patients have their genomes sequenced, the information that can be gleaned from such a detailed look at their genetic make-up allows doctors to see which conditions they may be vulnerable to, which conditions they may have inherited, and also detect cancer in the blood at an early stage.