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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