Assembly accuracy, after incorporating complementary short-read sequencing data, exceeded 99.8%. The final assembled genome was 2,867 million bases in size, covering 85.8% of the reference. Incorporating an additional 5× coverage of these ultra-long reads more than doubled the assembly contiguity (NG50 ∼6.4 Mb). We developed a protocol to generate ultra-long reads (N50 > 100 kb, read lengths up to 882 kb). De novo assembly of nanopore reads alone yielded a contiguous assembly (NG50 ∼3 Mb). Reference-based alignment enabled detection of large structural variants and epigenetic modifications.
91.2 Gb of sequence data, representing ∼30× theoretical coverage, were produced. 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.
Nature Biotechnology volume 36, pages 338–345 ( 2018) Cite this article
Nanopore sequencing and assembly of a human genome with ultra-long reads
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