Featured Publications
SVScore: an impact prediction tool for structural variation
Ganel L, Abel HJ, , Hall IM. SVScore: an impact prediction tool for structural variation. Bioinformatics 2017, 33: 1083-1085. PMID: 28031184, PMCID: PMC5408916, DOI: 10.1093/bioinformatics/btw789.Peer-Reviewed Original ResearchBEDTools: a flexible suite of utilities for comparing genomic features
Quinlan AR, Hall IM. BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 2010, 26: 841-842. PMID: 20110278, PMCID: PMC2832824, DOI: 10.1093/bioinformatics/btq033.Peer-Reviewed Original ResearchConceptsBrowser Extensible DataComprehensive user manualNew software suiteUNIX commandsMassive datasetsLarge genomic datasetsSource codeExtensible dataGenomics tasksSoftware suiteFundamental taskLarge datasetsBAM formatUser manualAnnotation tracksWeb-based methodsSupplementary dataEfficient mannerFlexible suiteDatasetFlexible toolBEDToolsCurrent sequencing technologiesGenomic datasetsTask
2014
Population-based structural variation discovery with Hydra-Multi
Lindberg MR, Hall IM, Quinlan AR. Population-based structural variation discovery with Hydra-Multi. Bioinformatics 2014, 31: 1286-1289. PMID: 25527832, PMCID: PMC4393510, DOI: 10.1093/bioinformatics/btu771.Peer-Reviewed Original ResearchConceptsNumber of genomesSV analysisStructural variation discoveryStructural variant detectionHuman genomeCancer Genome AtlasVariation discoveryGenomic rearrangementsGenome ProjectSequence alignmentSignal integrationIndel discoveryGenome AtlasGenomeMultiple individualsSupplementary dataSize variabilityVariant detectionCommodity hardwarePoor scalabilityAvailable datasetsAnalysis workflowScalabilityExtant toolsDiscovery