iFUSE

iFUSE identifies and annotates candidate fusion genes from structural variation (SV) data to predict associated RNA and protein sequences.

Key Features:

• Visualization of Structural Variation Data: Visualizes structural variations (SVs) to support interpretation of genomic rearrangements.
• Prioritization of Fusion Breakpoints: Prioritizes genomic breakpoints indicative of fusion genes using calculated break points and genomic annotations.
• Integration with Genomic Annotations: Integrates up-to-date genomic sequence annotations to support prediction of RNA and protein sequences resulting from SV events.
• Flexible Input Formats: Accepts Complete Genomics junction files, FusionMap fusion detection report files, and previously annotated iFUSE files as input.
• Annotation of Predicted Molecular Consequences: Annotates SV events with predicted RNA and protein sequences derived from breakpoint information.
• Application to Tumor–Normal SV Detection: Supports analysis of tumor–normal structural variation detection derived from Complete Genomics whole-genome sequencing datasets.

Scientific Applications:

• Cancer Genomics: Identification and prioritization of fusion genes to inform studies of tumorigenesis and oncogenic mechanisms.
• Oncogene Discovery and Target Identification: Discovery of novel oncogenes and characterization of fusion-derived protein products for potential targeted therapies.

Methodology:

Uses calculated break points based on comprehensive genomic sequence annotations to determine potential fusion genes and annotates SV events with predicted RNA and protein sequences.