Genome biology · 2009 · 266 citations · 38 references
Life SciencesBioinformaticsGeneticsGenomic Data AnalysisGenomic InformaticsGenomicsDna SequencingGenome AlignmentGenome MappingGenome SequencingGenomic Data IntegrationRead MappingRead AlignmentReference Genome AlignmentReference-guided AlignmentShort-read MappingSimultaneous AlignmentSimultaneous Mapping
Genome resequencing with short reads generally relies on alignments against a single reference. GenomeMapper supports simultaneous mapping of short reads against multiple genomes by integrating related genomes (e.g., individuals of the same species) into a single graph structure. It constitutes the first approach for handling multiple references and introduces representations for alignments against complex structures. Demonstrated benefits include access to polymorphisms that cannot be identified by alignments against the reference alone. Download GenomeMapper at http://1001genomes.org.
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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
SOAP2: an improved ultrafast tool for short read alignment
Ruiqiang Li, Chang Yu, Yingrui Li et al. · Bioinformatics · 2009 · 3.9K citations