IntroVerse

IntroVerse profiles intron usage across human tissues by cataloging annotated introns and novel splice junctions to characterize splicing variation relevant to rare and complex diseases.

Key Features:

• Extensive catalogue: Contains 332,571 annotated introns derived from analysis of 17,510 human control RNA samples across 54 tissues from the Genotype-Tissue Expression (GTEx) Consortium.
• Novel junction identification: Compiles 4,679,474 novel splice junctions across 32,669 genes detected in RNA-sequencing data.
• Hierarchical mapping: Assigns each novel junction to a specific annotated intron to enable identification of novel transcripts from known genes and to examine tissue-specific usage patterns.
• Assessment of splicing noise: Enables comparison of canonical and non-canonical splicing events to distinguish background splicing variability from potential mis-splicing in disease states.

Scientific Applications:

• Disease research: Identification of mis-spliced introns to investigate molecular mechanisms of diseases associated with splicing errors.
• Transcriptomics: Exploration of novel transcripts and their tissue-specific expression patterns to study gene regulation and function.
• Genomic studies: Support for analyses of the impact of genetic variation on RNA processing across tissues using the comprehensive junction and intron dataset.

Methodology:

Analysis of Genotype-Tissue Expression (GTEx) RNA-sequencing data (17,510 control samples across 54 tissues), detection of splice junctions in RNA-seq, and assignment of novel junctions to annotated introns to produce a hierarchical mapping.