2014
Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities
Falk M, Shen L, Gonzalez M, Leipzig J, Lott M, Stassen A, Diroma M, Navarro-Gomez D, Yeske P, Bai R, Boles R, Brilhante V, Ralph D, DaRe J, Shelton R, Terry S, Zhang Z, Copeland W, van Oven M, Prokisch H, Wallace D, Attimonelli M, Krotoski D, Zuchner S, Gai X, participants: M, Bale S, Bedoyan J, Behar D, Bonnen P, Brooks L, Calabrese C, Calvo S, Chinnery P, Christodoulou J, Church D, Clima R, Cohen B, Cotton R, de Coo I, Derbenevoa O, Dunnen J, Dimmock D, Enns G, Gasparre G, Goldstein A, Gonzalez I, Gwinn K, Hahn S, Haas R, Hakonarson H, Hirano M, Kerr D, Li D, Lvova M, Macrae F, Maglott D, McCormick E, Mitchell G, Mootha V, Okazaki Y, Pujol A, Parisi M, Perin J, Pierce E, Procaccio V, Rahman S, Reddi H, Rehm H, Riggs E, Rodenburg R, Rubinstein Y, Saneto R, Santorsola M, Scharfe C, Sheldon C, Shoubridge E, Simone D, Smeets B, Smeitink J, Stanley C, Suomalainen A, Tarnopolsky M, Thiffault I, Thorburn D, Van Hove J, Wolfe L, Wong L. Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Molecular Genetics And Metabolism 2014, 114: 388-396. PMID: 25542617, PMCID: PMC4512182, DOI: 10.1016/j.ymgme.2014.11.016.Peer-Reviewed Original ResearchConceptsWeb portalData resourcesLocus-specific databasesAnnotation tracksData analysis needsResearch communityAnalysis toolsUnique identifier systemsCentral web portalMitochondrial diseaseCustom annotation tracksUser-friendly fashionData analysis toolsGenomic data analysisUser interrogationData of relevanceDataset curationData sharingData visualizationIdentifier systemVariant pathogenicity assessmentCentralized knowledgeAnalysis needsOntology toolsMSeqDR
2010
BEDTools: 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
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