ThorAxe

ThorAxe constructs evolutionary splicing graphs to analyze conservation of alternative splicing (AS) across multiple species and assess its impact on protein function.

Key Features:

• Evolutionary Splicing Graphs: Generalizes splicing graphs to capture whole-transcript variability across species with nodes defined as minimal transcript building blocks conserved across organisms.
• Parsimonious Representation: Builds parsimonious evolutionary splicing graphs that minimize redundancy while preserving essential transcript variations.
• Functional Relevance and Conservation Analysis: Identifies links between functional relevance, tissue-specific regulation, and conservation of AS events across sets of genes.
• Scalability: Scales analyses to the entire human protein-coding genome and identifies thousands of genes where alternative splicing modulates the number and composition of pseudo-repeats.

Scientific Applications:

• Evolutionary Biology: Enables study of conservation and diversification of gene expression mechanisms across species at the transcript level.
• Genetics and Medicine: Supports linking AS events and tissue-specific regulation to genetic variation relevant for disease and therapeutic outcomes.
• Transcriptomics: Facilitates exploration of transcript variability and the regulatory roles of alternative splicing.

Methodology:

Builds evolutionary splicing graphs by defining nodes as minimal transcript building blocks conserved across species and applies this framework at scale to the human protein-coding genome.