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Life SciencesBioinformaticsGeneticsGenomic Data AnalysisGenomicsDna SequencingNext-generation SequencingRare Disease GenomicsVariant CallingVariant DetectionAmplicon SequencingAmplification-based Mutation DetectionDeletion MutationsDeletions DetectionIndel DetectionInsertion MutationsNext-generation Sequencing-based DetectionSomatic Mutations
11
The Sequence Alignment/Map format and SAMtools
Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text
Aligning sequence reads, clone sequences and assembly con*gs with BWA-MEM
Heng Li · arXiv (Cornell University) · 2014 · 5.8K citations · Full text
BreakDancer: an algorithm for high-resolution mapping of genomic structural variation
Ken Chen, John W. Wallis, Michael D. McLellan et al. · Nature Methods · 2009 · 1.6K citations
Panagiotis Kottaridis, Rosemary E. Gale, Marion E. Frew et al. · Blood · 2001 · 1.5K citations · Full text
Life Sciences, Genetics, Hematology +16