Tuesday, 20 Nov 2018

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Human genome decoded with pocket-sized device

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Health Desk: 30 January 2018: Scientists used a portable device no bigger than a cellphone to sequence the complete human genome ever assembled with a single technology, according to a study published Monday.

The breakthrough, detailed in the journal Nature Biotechnology, brings us closer to the day when family doctors will order up genome scans during a regular check-up along with blood work, the authors suggested.

"We are definitely approaching the point where sequencing genomes will become a routine part of advanced clinical exams," lead author Matthew Loose, a professor at the University of Nottingham, told AFP.

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 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.

The human genome is composed of more than three billion pairing of building-block molecules and grouped into some 25,000 genes.

It contains the codes and instructions that tell the body how to grow and develop. Flaws in the instructions can lead to disease.

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 marshaled hundreds of scientists and the computing power from 20 major universities and research institutes.