Nature Biotechnology · 2011 · 133 citations · 41 references
Life SciencesBioinformaticsGeneticsGenome AssemblyGenome OrganizationGenomicsDe Novo Genome AssemblyGene MappingGenome MappingSequence AssemblyStructural Variant AnalysisStructural VariationAssembly-based Structural Variant DiscoverySingle-nucleotide VariantsStructural Variant ResolutionStructural Variation MappingStructural Variation ResolutionWhole-genome AlignmentWhole-genome Sequencing Based Mapping
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Fast and accurate short read alignment with Burrows–Wheeler transform
Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text
Initial sequencing and analysis of the human genome
Eric S. Lander, Lauren Linton, Bruce W. Birren et al. · Nature · 2001 · 24.6K citations · Full text
The Sequence of the Human Genome
J. Craig Venter, Mark D. Adams, Eugene W. Myers et al. · Science · 2001 · 13.7K citations
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
W. James Kent · Genome Research · 2002 · 8.4K citations · Full text