Genome biology · 2013 · 83 citations · 33 references
Life SciencesBioinformaticsMolecular BiologyGenomic Data AnalysisGenomicsTranscriptomicsCancer GenomicsCancer TranscriptomicsGene Fusions In CancerGenomic Data IntegrationNext-generation SequencingRna Sequencing AnalysisCoverageFusion Transcript AnalysisFusion Transcript DetectionMolecular JunctionsRna JunctionsRna SequencingSplice Junction IdentificationSplice Variant Analysis
A large number of RNA-sequencing studies set out to predict mutations, splice junctions or fusion RNAs. We propose a method, CRAC, that integrates genomic locations and local coverage to enable such predictions to be made directly from RNA-seq read analysis. A k-mer profiling approach detects candidate mutations, indels and splice or chimeric junctions in each single read. CRAC increases precision compared with existing tools, reaching 99:5% for splice junctions, without losing sensitivity. Importantly, CRAC predictions improve with read length. In cancer libraries, CRAC recovered 74% of validated fusion RNAs and predicted novel recurrent chimeric junctions. CRAC is available at http://crac.gforge.inria.fr.
33
Fast and accurate short read alignment with Burrows–Wheeler transform
Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text
Fast gapped-read alignment with Bowtie 2
Ben Langmead, Steven L. Salzberg · Nature Methods · 2012 · 61.1K citations
Mapping and quantifying mammalian transcriptomes by RNA-Seq
A Mortazavi, Brian A. Williams, Kenneth McCue et al. · Nature Methods · 2008 · 14.3K citations