Genome biology · 2024 · 384 citations · 45 references
Life SciencesBioinformaticsGeneticsGenome AssemblyGenomic Data AnalysisGenomicsDe Novo Genome AssemblyDna SequencingGenome SequencingLong-read AssemblyNext-generation SequencingSequence AssemblyDuplication DetectionDuplication MappingLong-read SequencingNanopore Sequencing
Long-read sequencing data, particularly those derived from the Oxford Nanopore sequencing platform, tend to exhibit high error rates. Here, we present NextDenovo, an efficient error correction and assembly tool for noisy long reads, which achieves a high level of accuracy in genome assembly. We apply NextDenovo to assemble 35 diverse human genomes from around the world using Nanopore long-read data. These genomes allow us to identify the landscape of segmental duplication and gene copy number variation in modern human populations. The use of NextDenovo should pave the way for population-scale long-read assembly using Nanopore long-read data.
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The Sequence Alignment/Map format and SAMtools
Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text
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A global reference for human genetic variation
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Minimap2: pairwise alignment for nucleotide sequences
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