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Such Long Sequences

Researchers from the UK and US have used nanopore sequencing to put together a reference human genome.

"The ability to get long reads is one of the strengths of this technology, and as a result this is the most contiguous human genome assembly ever done," says co-first author Miten Jain, a postdoc at the University of California, Santa Cruz, in a statement.

As they report in Nature Biotechnology today, the researchers used Oxford Nanopore Technologies' MinIon to sequence to GM12878 Utah/Ceph cell line. They report generating 91.2 gigabases of sequence data, about 30X coverage, and then with an ultra long-read protocol they developed, the researchers added a further 5X coverage. They then assembled the reads into a 2,867-million-base genome. The researchers note that they captured the MHC region in a single contig.

The researchers first reported their work at the BioRxiv preprint server last April. When GenomeWeb reported on the findings at that time, author Adam Phillippy from National Human Genome Research Institute said that the approach, especially the ultra long-read protocol, highlighted the potential of nanopore sequencing. Phillippy also noted, though, that the MinIon is "still limited by throughput."