Splicing and Junction Mapping

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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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