The mobile phone-sized device called MinION sequenced a complete human genome ever mapped using a single technology.
Dr Andrew Beggs, of Birmingham University's Institute of Cancer and Genomic Sciences, said: "The human genome is the body's code that tells the body how to grow and develop and all the instructions in it are similar between people, but when the instructions go wrong that's when disease develops". That makes the human genome it assembled the most complete one ever created to date.
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.
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. Loose said, "Telomere length can be quite important in cancer and ageing, it's hard in short reads because of the repeats, but we can see and start to map those things".
Matthew Loose, from the University of Nottingham, said that this technology analyzed longer DNA strands so that "we can read parts of the genome not seen before". This in turn may have a profound impact on clinical practice by, for example, enabling detection of large genome rearrangements important in the development of cancer or determining a person's inherited repertoire of antibody genes.
As well as sequencing previously uncharacterized regions of the genome, the new analysis provided greater insight into regions of the genome that are responsible for functions such as immunity and tumor growth.
"This is a landmark for genomics".
"We hope that a pocket-size sequencer is going to give us the ability to bring sequencing much closer to the patient", Loman said.
The researchers pieced together human genome by means of passing the DNA strands and electrically charged atoms to tube-like structures. The sequencer, approximately the size of a mobile phone, sequences the DNA by detecting the change in current flow as single molecules of DNA pass through a tiny hole (a "nanopore") in a membrane.
"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 United Kingdom, told BBC News.