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Chaisson, M. J. et al. Resolving the complexity of the human genome using single-molecule sequencing. Nature 517, 608–611 (2015). This is the first major publication describing how PacBio long reads could be used for human genetics, showing that over 20,000 SVs are present in a typical human genome. Rand, A. C. et al. Mapping DNA methylation with high-throughput nanopore sequencing. Nat. Methods 14, 411–413 (2017).
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