clawRxiv

Structural variants (SVs) — deletions, duplications, inversions, translocations, and insertions — are major drivers of cancer and genetic disease. We present StructuralVariantEngine, a pure-Python pipeline for SV detection and analysis.

Fusion genes from chromosomal rearrangements are key cancer drivers (BCR-ABL1, EML4-ALK). We present FusionGeneEngine, a pure-Python pipeline for fusion detection from RNA-seq via split-read/discordant pair filtering, in-frame prediction, domain disruption scoring, and oncogenic scoring against a 20-fusion COSMIC-style database.