The most extensive and detailed human genome sequence yet has been assembled using a hand-held device roughly the size of a cell phone. Best of all, the new device is expected to cost about $1,000 US. I don’t think I will buy one at that price but I can see where a small medical office or other medical professionals certainly will want one.
An international team of scientists working at a lab at the University of California, Santa Cruz, created a portable nanopore sequencer that not only used DNA fragments hundreds of times longer than is standard, but closed 12 gaps in the known human genome, according to a UCSC press release.
The research, published January 29 in Nature Biotechnology, involved scientists at UC Santa Cruz; the U.S. National Human Genome Research Institute (NHGRI); the University of Nottingham, University of Birmingham, and University of East Anglia in the U.K.; and the University of Salt Lake City, University of British Columbia, and the Ontario Institute for Cancer Research in Toronto.
Using a pocket-sized, portable DNA sequencer based on nanopore sequencing technology pioneered at UC Santa Cruz, the scientists sequenced a complete human genome, in fragments hundreds of times larger than usual, enabling new biological insights. This included detecting structural variants and epigenetic modifications in the genome, as well as closing 12 gaps in the human reference genome, thereby improving its accuracy.
You can read the press release at: https://news.ucsc.edu/2018/01/nanopore-genome.html.