Splicing and Junction Mapping

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CLASS – Splice Variant Annotation from RNA-Seq Reads

CLASS – Splice Variant Annotation from RNA-Seq Reads

Next generation sequencing of cellular RNA is making it possible to characterize genes and alternative splicing in unprecedented detail. However, designing bioinformatics tools to capture splicing variation accurately has proven difficult. Current programs find major isoforms of a gene but ...

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Open-access synthetic spike-in mRNA-seq data for cancer gene fusions

Open-access synthetic spike-in mRNA-seq data for cancer gene fusions

Oncogenic fusion genes underlie the mechanism of several common cancers. Next-generation sequencing based RNA-seq analyses have revealed an increasing number of recurrent fusions in a variety of cancers. However, absence of a publicly available gene-fusion focused RNA-seq data impedes comparative ...

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RVboost: RNA-Seq variants prioritization using a boosting method

RVboost: RNA-Seq variants prioritization using a boosting method

RNA-Seq has become the method of choice to quantify genes and exons, discover novel transcripts, and detect fusion genes. However, reliable variant identification from RNA-Seq data remains challenging due to the complexities of the transcriptome, the challenges of accurately mapping ...

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JAGuaR: Junction Alignments to Genome for RNA-Seq Reads

JAGuaR: Junction Alignments to Genome for RNA-Seq Reads

JAGuaR is an alignment protocol for RNA-seq reads that uses an extended reference to increase alignment sensitivity. It uses BWA to align reads to the genome and reference transcript models (including annotated exon-exon junctions) specifically allowing for the possibility of ...

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SigFuge – single gene clustering of RNA-seq reveals differential isoform

SigFuge – single gene clustering of RNA-seq reveals differential isoform

High-throughput sequencing technologies, including RNA-seq, have made it possible to move beyond gene expression analysis to study transcriptional events including alternative splicing and gene fusions. Furthermore, recent studies in cancer have suggested the importance of identifying transcriptionally altered loci as ...

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