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takyon [soylentnews.org] writes:

Pocket-Size Nanopore Device Sequences Entire Human Genome [the-scientist.com]

Researchers have assembled the entire human genome using a nanopore sequencer, according to a study published today (January 29) in Nature Biotechnology [nature.com] [open, DOI: 10.1038/nbt.4060] [DX [doi.org]]. Using a pocket-size device, dubbed MinION, the team was able to fill 12 gaps in the sequenced human genome by achieving reads of DNA sequences nearly one million bases in length—the longest to date.

Also at BBC [bbc.com].

Nanopore sequencing and assembly of a human genome with ultra-long reads (linked above)

We report the sequencing and assembly of a reference genome for the human GM12878 Utah/Ceph cell line using the MinION (Oxford Nanopore Technologies) nanopore sequencer. 91.2 Gb of sequence data, representing ∼30× theoretical coverage, were produced. Reference-based alignment enabled detection of large structural variants and epigenetic modifications. De novo assembly of nanopore reads alone yielded a contiguous assembly (NG50 ∼3 Mb). We developed a protocol to generate ultra-long reads (N50 > 100 kb, read lengths up to 882 kb). Incorporating an additional 5× coverage of these ultra-long reads more than doubled the assembly contiguity (NG50 ∼6.4 Mb). The final assembled genome was 2,867 million bases in size, covering 85.8% of the reference. Assembly accuracy, after incorporating complementary short-read sequencing data, exceeded 99.8%. Ultra-long reads enabled assembly and phasing of the 4-Mb major histocompatibility complex (MHC) locus in its entirety, measurement of telomere repeat length, and closure of gaps in the reference human genome assembly GRCh38.

Previously: The MinION - Genome Sequencing in a Handheld Device [soylentnews.org]
A MARC in the Silicon: Sequencing E. coli with the MinION [soylentnews.org]
Update: Sequencing That Stimulates the Sensors, and MinION Q&A Responses [soylentnews.org]

Related: 3D Genome Assembly Could Create a Human Reference Genome for Under $10,000 [soylentnews.org]

Original Submission