Featured Publications
The impact of structural variation on human gene expression
Chiang C, Scott AJ, Davis JR, Tsang EK, Li X, Kim Y, Hadzic T, Damani FN, Ganel L, Montgomery S, Battle A, Conrad D, Hall I. The impact of structural variation on human gene expression. Nature Genetics 2017, 49: 692-699. PMID: 28369037, PMCID: PMC5406250, DOI: 10.1038/ng.3834.Peer-Reviewed Original Research
2012
YAHA: fast and flexible long-read alignment with optimal breakpoint detection
Faust GG, Hall IM. YAHA: fast and flexible long-read alignment with optimal breakpoint detection. Bioinformatics 2012, 28: 2417-2424. PMID: 22829624, PMCID: PMC3463118, DOI: 10.1093/bioinformatics/bts456.Peer-Reviewed Original ResearchConceptsSingle best alignmentLinux systemQueriesAcyclic graphBWA-SWAlignment toolsSimple heuristicsMultiple mappingsOptimal setAssembly algorithmStructural variant detectionComplex SVsBreakpoint detectionPossible alignmentsSample dataSV classesYahaLess timeBetter alignmentVariant detectionAlignersDownloadHeuristicsSSAHA2Algorithm