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- Title
Nanopore sequencing and assembly of a human genome with ultra-long reads.
- Authors
Jain, Miten; Koren, Sergey; Miga, Karen H; Quick, Josh; Rand, Arthur C; Sasani, Thomas A; Tyson, John R; Beggs, Andrew D; Dilthey, Alexander T; Fiddes, Ian T; Malla, Sunir; Marriott, Hannah; Nieto, Tom; O'Grady, Justin; Olsen, Hugh E; Pedersen, Brent S; Rhie, Arang; Richardson, Hollian; Quinlan, Aaron R; Snutch, Terrance P
- Abstract
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.
- Publication
Nature Biotechnology, 2018, Vol 36, Issue 4, p338
- ISSN
1087-0156
- Publication type
Article
- DOI
10.1038/nbt.4060