Annotation-free quantification of RNA splicing using LeafCutter

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The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

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Differential analysis of gene regulation at transcript resolution with RNA-seq

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rMATS: Robust and flexible detection of differential alternative splicing from replicate RNA-Seq data

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Transcriptome and genome sequencing uncovers functional variation in humans

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