Assessing Conservation of Alternative Splicing with Evolutionary Splicing Graphs

Published: Nov. 15, 2020, 8:02 p.m.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.11.14.382820v1?rss=1 Authors: Zea, D. J., Laskina, S., Richard, H., Laine, E. Abstract: Understanding how protein function has evolved and diversified is of great importance for human genetics and medicine. Here, we tackle the problem of describing the whole transcript variability observed in several species by generalising the definition of splicing graph. We provide a practical solution to building parsimonious evolutionary splicing graphs where each node is a minimal transcript building block defined across species. We show that this approach is useful to assess transcript and alternative splicing events evolutionary conservation on a curated set of 50 genes with functionally distinct isoforms. By scaling up to the whole human protein-coding genome, we identify a few thousands of genes where alternative splicing modulates the number and composition of pseudo-repeats. We have implemented our approach in ThorAxe, an efficient, versatile, and robust computational tool freely available at https://github.com/PhyloSofS-Team/thoraxe. The results are accessible and can be browsed interactively at http://www.lcqb.upmc.fr/ThorAxe. Copy rights belong to original authors. Visit the link for more info