Method

Augmenting transcriptome annotations through the lens of splicing evolution

    • 1Huck Institutes of the Life Sciences, The Pennsylvania State University, University Park, Pennsylvania 16802, USA;
    • 2Center for Computational and Genomic Medicine, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA;
    • 3Department of Computer Science and Engineering, The Pennsylvania State University, University Park, Pennsylvania 16802, USA
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cover of Genome Research Vol 36 Issue 6
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Abstract

Transcriptome annotations remain incomplete despite enormous efforts. Annotations are largely driven by experimental data, whereas little is understood from an evolutionary perspective. Here we present TENNIS, a model for isoform representation and inference. TENNIS models isoforms in a transcript group as nodes of a connected graph, in which the edges represent basic alternative splicing events, and predicts missing isoforms using a novel algorithm. Our analysis indicates that approximately 80% of the analyzed isoform groups satisfy our model, whereas the identified missing transcripts show high accuracy. TENNIS achieves these results without using additional sequencing data, offering insights into alternative splicing and a powerful tool for constructing annotations.

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