Handheld device could bring genome sequencing into the maintstream

This is one conclusion from a study that used a pocket sized, portable DNA sequencer to sequence the complete human genome in fragments hundreds of times larger than usual.

The research, published in Nature Biotechnology, involved scientists from the University of Nottingham, University of Birmingham and the University of East Anglia in the UK in collaboration with researchers in the US and Canada.

The authors generated a new method for sequencing “ultra-long” sequences of DNA, more than a thousand times longer than the original ‘reads’ used to generate the human genome reference sequence in 2001.

The authors have used this method to generate the longest ever read sequenced at 1,204,840 base-pairs (an individual’s DNA code stored as a sequence of bound pairs of the organic bases adenine, guanine, cytosine and thymine) in length, or 8,000 times longer than a typical sequencing read.

The authors speculate that these reads and longer ones can be generated routinely in future, enabling human genomes as complete as the reference genome which was the subject of over 20 years of research and over $2bn of investment.