Identifying the Signatures of Missing Transcripts

In eukaryotes, alternative splicing (AS) is a fundamental mechanism of post-transcriptional regulation. AS occurs within the majority of multi-exon genes and has important implications for physiology, development, and diseases. AS might generate a plethora of different transcript isoforms from a single gene and lead to differential expression of transcript isoforms across tissues, developmental time points and disease-states. The increasing amount of available RNA-seq data has resulted in various transcript assembly algorithms. However, these algorithms are far from perfect, often yielding highly incomplete, and sometimes erroneous, transcriptome reconstructions. In our presentation we discuss how gene and alignment features, as well as other metrics, could be used to detect un-annotated alternative splicing events. The goal of our research is to identify genes that show reliable evidence for ‘missing’ splice variants in their transcript catalogue.