![]() This is due to size ( ∼3.1 Gb), heterozygosity, regions of GC% bias, diverse repeat families, and segmental duplications (up to 1.7 Mbp in size) that make up at least 50% of the genome 6. Despite improvements in sequencing technology, assembling human genomes with high accuracy and completeness remains challenging. The human genome is used as a yardstick to assess performance of DNA sequencing instruments 1, 2, 3, 4, 5. 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. 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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