articleTop 1% cited
Accurate detection of complex structural variations using single-molecule sequencing
Nature Methods · 2018 · Vol. 15(6) · pp. 461–468
Fritz J. Sedlazeck✉(Baylor College of Medicine)Philipp Rescheneder(Max Perutz Labs)Moritz Smolka(Max Perutz Labs)Han Fang(Cold Spring Harbor Laboratory)Maria Nattestad(Cold Spring Harbor Laboratory)Arndt von Haeseler(University of Vienna)Michael C. Schatz(Johns Hopkins University)
Genomics and Phylogenetic StudiesGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesComputer scienceStructural variationIdentification (biology)Computational biologyField (mathematics)Data miningFilter (signal processing)GenomeBiologyGenetics
MeSH terms
DNA Mutational AnalysisHumansGenome, HumanSequence Analysis, DNAGenomicsHigh-Throughput Nucleotide Sequencing
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Genome structural variation discovery and genotyping
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The Sequence Alignment/Map format and SAMtools
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LUMPY: a probabilistic framework for structural variant discovery
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Mapping single molecule sequencing reads using basic local alignment with successive refinement (BLASR): application and theory
BMC Bioinformatics · 2012 · 1,346 citations
Adaptive seeds tame genomic sequence comparison
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Coming of age: ten years of next-generation sequencing technologies
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Nature Methods · 2016 · 2,186 citations
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