Nature Biotechnology · 2012 · 686 citations · 30 references
Life SciencesBioinformaticsGeneticsGenome AssemblyGenomic Data AnalysisGenomicsDe Novo Genome AssemblyGene MappingGenome MappingGenome SequencingSequence AssemblyStructural Variant AnalysisAssembly-based Structural Variant DiscoveryAssembly-based Variant DetectionStructural Variant-aware AssemblyStructural Variation Mapping
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A framework for variation discovery and genotyping using next-generation DNA sequencing data
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Velvet: Algorithms for de novo short read assembly using de Bruijn graphs
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De novo assembly of human genomes with massively parallel short read sequencing
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Detection of large-scale variation in the human genome
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