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Nanopore sequencing and assembly of a human genome with ultra-long reads
Nanopore sequencing is a promising technique for genome sequencing due to its portability, ability to sequence long reads from single molecules, and to simultaneously assay DNA methylation. HoweverExpand
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Nanopore sequencing and assembly of a human genome with ultra-long reads
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,Expand
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Centromere reference models for human chromosomes X and Y satellite arrays.
The human genome sequence remains incomplete, with multimegabase-sized gaps representing the endogenous centromeres and other heterochromatic regions. Available sequence-based studies within theseExpand
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Improved data analysis for the MinION nanopore sequencer
Speed, single-base sensitivity and long read lengths make nanopores a promising technology for high-throughput sequencing. We evaluated and optimized the performance of the MinION nanopore sequencerExpand
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Genomic Characterization of Large Heterochromatic Gaps in the Human Genome Assembly
The largest gaps in the human genome assembly correspond to multi-megabase heterochromatic regions composed primarily of two related families of tandem repeats, Human Satellites 2 and 3 (HSat2,3). Expand
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Telomere-to-telomere assembly of a complete human X chromosome
After nearly two decades of improvements, the current human reference genome (GRCh38) is the most accurate and complete vertebrate genome ever produced. However, no one chromosome has been finishedExpand
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Human Artificial Chromosomes that Bypass Centromeric DNA
Summary Recent breakthroughs with synthetic budding yeast chromosomes expedite the creation of synthetic mammalian chromosomes and genomes. Mammals, unlike budding yeast, depend on the histone H3Expand
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Replication of alpha-satellite DNA arrays in endogenous human centromeric regions and in human artificial chromosome
In human chromosomes, centromeric regions comprise megabase-size arrays of 171 bp alpha-satellite DNA monomers. The large distances spanned by these arrays preclude their replication from externalExpand
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Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes
De novo assembly of a human genome using nanopore long-read sequences has been reported, but it used more than 150,000 CPU hours and weeks of wall-clock time. To enable rapid human genome assembly,Expand
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Heterochromatin-Encoded Satellite RNAs Induce Breast Cancer.
Heterochromatic repetitive satellite RNAs are extensively transcribed in a variety of human cancers, including BRCA1 mutant breast cancer. Aberrant expression of satellite RNAs in cultured cellsExpand
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