SVDSS: structural variation discovery in hard-to-call genomic regions using sample-specific strings from accurate long reads
Luca Denti, Parsoa Khorsand, Paola Bonizzoni, Fereydoun Hormozdiari, Rayan Chikhi
Topics & Concepts
Structural variationHuman genomeGenomeComputational biologyGenomicsComputer scienceSequence (biology)False discovery rateBiologySequence assemblyDNA sequencingGeneticsGeneTranscriptomeGene expressionGenomics and Phylogenetic StudiesChromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities