Breakthrough leads to sequencing of a human genome using a pocket-sized device

UCSC – A new nanopore technology for direct sequencing of long strands of DNA has resulted in the most complete human genome ever assembled with a single technology.

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 Utah, 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.

Read more at UCSC.

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