tappAS

tappAS performs isoform-level functional analysis of alternative splicing and Functional Iso-Transcriptomics (FIT) by integrating full-length transcript information from long-read sequencing to evaluate the functional consequences of transcript variants.

Key Features:

• Isoform-Centered Analysis: Performs analysis at the isoform level to dissect alternative transcript expression mechanisms (AltTEM) and their context-specific effects.
• Functional Iso-Transcriptomics (FIT) Analyses: Enables FIT analyses to link transcript variant expression to functional outcomes.
• Isoform-Resolved Functional Annotation: Provides annotation of coding and non-coding functional domains, motifs, and sites at the isoform level.
• Long-Read Sequencing Integration: Uses full-length transcripts from long-read sequencing to improve identification and characterization of complete isoforms.
• Novel Computational Methods: Employs novel analysis techniques to investigate effects of alternative splicing on protein function, gene regulation, and cellular processes.
• Assessment of Functional Consequences: Integrates isoform-resolved annotations with computational analyses to assess functional consequences of alternative splicing.

Scientific Applications:

• Post-transcriptional Regulation Studies: Provides isoform-level insight into how alternative splicing modulates gene function and regulation.
• Splice Variant Characterization: Facilitates exploration of the biological significance of specific splice variants.
• Disease Mechanism Investigation: Supports investigation of disease mechanisms linked to splicing anomalies.
• Therapeutic Target Identification: Aids identification of potential therapeutic targets arising from functionally relevant transcript variants.
• Genomics and Transcriptomics Research: Integrates functional annotation with long-read transcript data for studies in genomics, transcriptomics, and molecular biology.

Methodology:

Integration of isoform-resolved annotations with novel computational approaches to assess functional consequences of alternative splicing using full-length transcripts from long-read sequencing.