2024
Fragmentstein—facilitating data reuse for cell-free DNA fragment analysis
Balázs Z, Gitchev T, Ivanković I, Krauthammer M. Fragmentstein—facilitating data reuse for cell-free DNA fragment analysis. Bioinformatics 2024, 40: btae017. PMID: 38224549, PMCID: PMC10805340, DOI: 10.1093/bioinformatics/btae017.Peer-Reviewed Original ResearchMeSH KeywordsCell-Free Nucleic AcidsGenomeGenomicsHigh-Throughput Nucleotide SequencingNucleotidesSequence Analysis, DNASoftwareConceptsCopy number variantsNucleotide-level informationCell-free DNA sequencing dataDNA fragmentation analysisCell-free DNASensitive genomic dataFragment length analysisNucleosome occupancyBAM filesCommand-line toolSequence dataGenomic dataAnalysis of cell-free DNASequence informationGNU GPLv3Bioinformatics softwareFragment analysisFunctional analysisAlignment mapData sharingLength analysisFragmentsSimplified formatLimited data sharingGenome
2012
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma
Krauthammer M, Kong Y, Ha BH, Evans P, Bacchiocchi A, McCusker J, Cheng E, Davis MJ, Goh G, Choi M, Ariyan S, Narayan D, Dutton-Regester K, Capatana A, Holman EC, Bosenberg M, Sznol M, Kluger HM, Brash DE, Stern DF, Materin MA, Lo RS, Mane S, Ma S, Kidd KK, Hayward NK, Lifton RP, Schlessinger J, Boggon TJ, Halaban R. Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. Nature Genetics 2012, 44: 1006-1014. PMID: 22842228, PMCID: PMC3432702, DOI: 10.1038/ng.2359.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overCase-Control StudiesDNA Mutational AnalysisExomeFemaleGene FrequencyGenetic Predisposition to DiseaseHumansMaleMelanomaMiddle AgedModels, MolecularMutationProto-Oncogene Proteins B-rafProto-Oncogene Proteins p21(ras)Rac1 GTP-Binding ProteinSequence Analysis, DNASkin NeoplasmsUveal NeoplasmsConceptsSun-exposed melanomas