Methods in molecular biology · 2022 · 37 citations · 11 references
Life SciencesBioinformaticsGeneticsGenomic Data AnalysisGenomicsSequence AnalysisDna SequencingNext-generation SequencingStructural Variant AnalysisVariant AnalysisVariant CallingVariant DetectionLong-read SequencingLong-read Structural Variant AnalysisLong-read Variant DetectionStructural Variant DetectionVariant Detection From Long Reads
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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
Minimap2: pairwise alignment for nucleotide sequences
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An integrated map of structural variation in 2,504 human genomes
Peter H. Sudmant, Tobias Rausch, Eugene J. Gardner et al. · Nature · 2015 · 2.7K citations · Full text