Physical Sciences and Mathematics Commons^™

Quantifying Alternative Splicing From Paired-End Rna-Sequencing Data, David Rossell, Camille Stephan-Otto Attolini, Manuel Kroiss, Almond Stöcker

COBRA Preprint Series

RNA-sequencing has revolutionized biomedical research and, in particular, our ability to study gene alternative splicing. The problem has important implications for human health, as alternative splicing is involved in malfunctions at the cellular level and multiple diseases. However, the high-dimensional nature of the data and the existence of experimental biases pose serious data analysis challenges. We find that the standard data summaries used to study alternative splicing are severely limited, as they ignore a substantial amount of valuable information. Current data analysis methods are based on such summaries and are hence sub-optimal. Further, they have limited flexibility in accounting for …