SpliceTools – a suite of downstream RNA splicing analysis tools to investigate mechanisms and impact of alternative splicing
As a fundamental aspect of normal cell signaling and disease states, there is great interest…
Browsing: Splicing and Junction Mapping
SpliceVault – predicting the precise nature of variant-associated mis-splicing
Even for essential splice-site variants that are almost guaranteed to alter mRNA splicing, no current…
ESPRESSO – robust discovery and quantification of transcript isoforms from error-prone long-read RNA-seq data
Long-read RNA sequencing (RNA-seq) holds great potential for characterizing transcriptome variation and full-length transcript isoforms,…
MARVEL – an integrated alternative splicing analysis platform for single-cell RNA sequencing data
Alternative splicing is an important source of heterogeneity underlying gene expression between individual cells but…
FusionSeeker – gene fusion detection and characterization in long-read cancer transcriptome sequencing data
Gene fusions are prevalent in a wide array of cancer types with different frequencies. Long-read…