Researchers Develop a Device to Decode Human Genome

Tuesday, January 30, 2018 - 11:15

Researchers used a pocket-sized device no bigger than a cellphone to sequence the most complete human genome ever assembled with a single technology, according to a study published Monday.

The new sequencing method is the first to read long, unbroken strands of DNA, yielding a final result that is 99.88 percent accurate, the result of the study published in the journal Nature Biotechnology, Phys.org reports.

"The process of assembling a genome is like piecing together a jigsaw puzzle," said co-author Nicholas Loman, a scientist at the Institute of Microbiology and Infection and the University of Birmingham.

Critically, the so-called nanopore technology sheds light on poorly understood regions of the genome governing the body's immune responses and tumour growth.

This may help detect cancer DNA in the blood, and "pick up tumours before they are symptomatic or visible through radiological techniques," said Loman.

In the case of a patient with a suspected infection, the sequencing can be used to ferret out the genome of a virus or bacteria, he told AFP.

"We could also simultaneously look at how the patient is responding to that infection," he added, noting that each individual's immune system is different.

The first decoding of a human genome—completed in 2003—was a Manhattan Project-like effort: it took 15 years, cost three billion dollars, and marshalled hundreds of scientists and the computing power from 20 major universities and research institutes.

The researchers pieced together the genome by passing strands of DNA through minuscule tube-like structures—manufactured by Oxford Nanopore Technologies—along with electrically charged atoms.

Changes in the electrical current identify DNA molecules, which can then be mapped.

Complete sequencing is not to be confused with the gene kits offered by companies such as 23andMe and deCODEme, which only provide DNA snapshots, not the whole shebang.

There are only four molecular building blocks of DNA: adenine (A), cytosine (C), guanine (G), and thymine (T).

New gene-editing allow for ultra-precise changes and corrections in DNA coding.

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