Tools
Multimodal Analysis Generated Pathogenic Impact Evaluator
Tissue specific splicing prediction based on Transformer model
Anchored-Fusion
The Anchored-fusion is a bioinformatic tool which detects fusion genes bases on paired-end RNA-sequence with ultrahigh sensitivity. Anchored-fusion target on the gene you choose, it will give the fusion genes including the target gene. Other fusion genes will not be represented in the output file.
RESA
RESA detects somatic mutation with high precision directly from scRNA-seq data. The key assumption of this method is that cancer cells evolve in a clonal manner and thus expressed somatic mutations have cross-cell recurrence, whereas the noise and artefacts are likely distributed randomly with small probability of recurrence across the cell population. RESA is composed of three main steps: initial variant calling, filtering and labeling, and modeling and refinement.