Journal
NATURE BIOTECHNOLOGY
Volume 36, Issue 4, Pages 338-+Publisher
NATURE PORTFOLIO
DOI: 10.1038/nbt.4060
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Funding
- UK Antimicrobial Resistance Cross Council Initiative [JOG: MR/N013956/1]
- Rosetrees Trust [JOG: A749]
- Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health
- BBSRC [BB/N017099/1, BB/M020061/1]
- Canadian Institutes of Health Research [10677]
- Brain Canada Multi-Investigator Research Initiative Grant with Genome British Columbia the Michael Smith Foundation for Health Research
- Koerner Foundation
- Canada Research Chair in Biotechnology and Genomics-Neurobiology
- Ontario Institute for Cancer Research
- Government of Canada [OGI-129]
- US National Cancer Institute [NIH U24CA209999]
- Wellcome Trust [102732/Z/13/Z, 204843/Z/16/Z]
- Cancer Research UK [A23923]
- MRC [MR/M016587/1]
- MRC Fellowship in Microbial Bioinformatics as part of CLIMB
- NIHR Surgical Reconstruction and Microbiology Research Centre (SRMRC)
- Wellcome Trust [204843/Z/16/Z] Funding Source: Wellcome Trust
- BBSRC [BB/M020061/1, BB/R000492/1, BB/N018877/1, BB/N017099/1] Funding Source: UKRI
- MRC [MR/N013956/1, MR/M009157/1, MR/L015080/1, MR/M016587/1] Funding Source: UKRI
- Biotechnology and Biological Sciences Research Council [BB/R000492/1, BB/N018877/1, BB/N017099/1, BB/M020061/1, 1364101] Funding Source: researchfish
- Cancer Research UK [23923] Funding Source: researchfish
- Medical Research Council [MR/M016587/1, MR/M501621/1, MR/L015080/1, MR/N013956/1, MR/M009157/1] Funding Source: researchfish
- Rosetrees Trust [M468] Funding Source: researchfish
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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 similar to 30x 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 similar to 3 Mb). We developed a protocol to generate ultra-long reads (N50 > 100 kb, read lengths up to 882 kb). Incorporating an additional 5x coverage of these ultra-long reads more than doubled the assembly contiguity (NG50 similar to 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.
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