• Scientists have found out technology that can map human genetics
• This will be done with a DNA sequencer
• This technology can bring a revolution in the field of study of genetics

Scientists have assembled the most complete human genome to be mapped with a single technology using a new pocket-size portable DNA sequencer, which they say could one day make genome mapping quick and simple enough to do at home.

"If you imagine the process of assembling a genome … is like piecing together a jigsaw puzzle, the ability to produce extremely long sequencing reads is like finding very large pieces of the puzzle, which makes the process far less complex," said Nick Loman, a professor at the University of Birmingham's Institute of Microbiology and Infection who co-led the work.

Understanding and interpreting the human genome is a cornerstone of modern medicine, offering a wealth of information about a person's inherited genetics risks, the antibodies they have, or how their diseases — such as cancer — have developed.

The first mapping of the human genome — essentially a person's genetic recipe — was completed in 2003. It cost government-funded scientists $3 billion and 13 years of work.

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'Landmark for genomics'

Loman said the mini-sequencer may soon allow genome mapping to become a routine part of medical care.

"At the moment, sequencing is quite laborious and occurs in expensively equipped laboratories," he said. "But in future, we can imagine sequencing using pocket-size devices in [doctors'] surgeries, in clinics and even in people's own homes."

The MinION works by detecting the change in current flow as single molecules of DNA pass through a nanopore — or tiny hole — in a membrane. Mapping a human genome with this device costs around $1,000.

"This is a landmark for genomics," said Matt Loose of the University of Nottingham, who worked with Loman. "The long reads that are possible with nanopore sequencing will provide us with a much clearer picture of the overall structure and organization of the genome than ever before." VOA