Blood · 2018 · 209 citations · 50 references
MedicineGeneticsMolecular GeneticsCancer GeneticsMedical GeneticsMolecular OncologyCancer GenomicsCancer Molecular DiagnosticsGermline Cancer PredispositionMutation AnalysisMutational SignaturesVariant InterpretationCancer Genomics DiagnosticsCancer Mutation AnalysisTumor Mutation Analysis
mutations in 62% of evaluable patients. Gene fusions not associated with the Ph translocation occurred in 42% of patients at BC and commonly involved fusion partners that were known cancer genes (78%). Genomic analysis revealed numerous relevant variants at diagnosis in patients with poor outcome and all patients at BC. Future refined biomarker testing of specific variants will likely provide prognostic information to facilitate a risk-adapted therapeutic approach.
50
STAR: ultrafast universal RNA-seq aligner
Alexander Dobin, Carrie Davis, Felix Schlesinger et al. · Bioinformatics · 2012 · 56.2K citations · Full text
Haplotype-based variant detection from short-read sequencing
Erik Garrison, Gábor Marth · arXiv (Cornell University) · 2012 · 4.1K citations · Full text
COSMIC: exploring the world's knowledge of somatic mutations in human cancer
Simon Forbes, David Beare, Prasad Gunasekaran et al. · Nucleic Acids Research · 2014 · 2.4K citations · Full text