Bioinformatics · 2016 · 1.7K citations · 28 references
Life SciencesBioinformaticsMolecular BiologyGenome AssemblyGenomic Data AnalysisGenomicsContig ConstructionDe Novo Genome AssemblyDna SequencingGenome SequencingNext-generation SequencingRead MappingError Rate AnalysisFragment AssemblyLong-read MappingMapper ConstructionNanopore SequencingPipelinesSingle-molecule Real-time Sequencing
MOTIVATION: Single Molecule Real-Time (SMRT) sequencing technology and Oxford Nanopore technologies (ONT) produce reads over 10 kb in length, which have enabled high-quality genome assembly at an affordable cost. However, at present, long reads have an error rate as high as 10-15%. Complex and computationally intensive pipelines are required to assemble such reads. RESULTS: We present a new mapper, minimap and a de novo assembler, miniasm, for efficiently mapping and assembling SMRT and ONT reads without an error correction stage. They can often assemble a sequencing run of bacterial data into a single contig in a few minutes, and assemble 45-fold Caenorhabditis elegans data in 9 min, orders of magnitude faster than the existing pipelines, though the consensus sequence error rate is as high as raw reads. We also introduce a pairwise read mapping format and a graphical fragment assembly format, and demonstrate the interoperability between ours and current tools. AVAILABILITY AND IMPLEMENTATION: https://github.com/lh3/minimap and https://github.com/lh3/miniasm CONTACT: hengli@broadinstitute.org SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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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
Velvet: Algorithms for de novo short read assembly using de Bruijn graphs
Daniel R. Zerbino, Ewan Birney · Genome Research · 2008 · 9.7K citations · Full text
<tt>BLAT</tt>—The <tt>BLAST</tt>-Like Alignment Tool
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Aligning sequence reads, clone sequences and assembly con*gs with BWA-MEM
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Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data
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