SpliceDetector

SpliceDetector identifies alternative splicing (AS) events from transcript identifiers to profile splicing patterns and determine genomic coordinates of transcript exons for functional genomics analyses.

Key Features:

• Direct AS Event Identification from Transcripts: Identifies AS events directly from transcript identifiers without requiring raw read-level data.
• Utilization of Updated SpliceGraphs: Employs updated SpliceGraphs constructed based on the frequency of active splice sites in pre-mRNA.
• Statistical Analysis and Visualization: Performs statistical analysis and visualization by comparing query transcript exons to SpliceGraphs.
• Genomic Coordinates Discovery: Determines genomic coordinates of query transcript exons.
• Graphical Representation of AS Regions: Generates graphs illustrating alternative splicing regions and splice sites.

Scientific Applications:

• Genome-wide AS Profiling: Enables genome-wide profiling of alternative splicing in human and model organisms.
• Functional Genomics: Supports analysis of alternative splicing contributions to biological processes.
• Disease Research: Supports study of disease progression by identifying splicing alterations associated with pathogenesis.
• Drug Development: Identifies harmful splicing variants to support drug development programs targeting aberrant splicing.

Methodology:

Identifies AS events from transcript identifiers by using updated SpliceGraphs built from splice-site frequency in pre-mRNA, comparing query transcript exons to SpliceGraphs to detect AS events, determining genomic coordinates of query exons, performing statistical analyses, and generating graphical representations of AS regions.