RepGene: Auditing Condition-Specific Fusion Biases for Multi-View Gene Representations
Haiyang HouiD, Tianyi XiaiD, LH HuiD, Yong ZhangiD, Yuxiang Li, Qiang KangiD, Lei Cao
Abstract
This study evaluates how multi-view gene representations should be compared under a matched contract. Each of 18,460 genes is described by five aligned views: DNA sequence-derived features (D), RNA sequence-derived features (R), protein language-model embeddings (P), curated text knowledge (K), and single-cell expression (X). The contract fixes the gene universe, the 256-D output, label-free outer-training-only fitting, one random-forest probe, and task-equal Macro-F1 over nine registered binary tasks, and varies only the fusion operator across four protocol-defined input states: Core (DNA+RNA+protein), Core+K, Core+X, and Core+K+X. Under these states, the top-scoring operator changes with the available view combination and all task-bootstrap intervals overlap, establishing a condition-dependent rather than universal ranking pattern. An independently configured external RF track provides a separate check of the numerical range, while a gene-to-cell boundary diagnostic shows that gene-level differences attenuate toward a dimension-matched random control under expression-weighted aggregation, as predicted by a dilution identity. Historical log-derived multiplicative-interaction screening is retained only as magnitude-only supplementary evidence because fold-level records are unavailable. The contribution is therefore the matched contract and its audit trail: an evidence-graded protocol for turning fusion claims into comparable, condition-bounded measurements.
02 /Specification & Classification
Click any tag to browse matching papers- Citations
- 0
- Assay
- Research Focus
- Approach
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- Targeted in silico characterization of fusion transcripts in tumor and normal tissues via FusionInspector
Brian J. Haas, Alexander Dobin, … Aviv Regev·Cell Reports MethodsPeer-reviewed·May 1, 2023
- annoFuse: an R Package to annotate, prioritize, and interactively explore putative oncogenic RNA fusions
Krutika Satish Gaonkar, Fédérico Marini, … Jo Lynne Rokita·BMC BioinformaticsPeer-reviewed·Dec 1, 2020
- AGFusion: annotate and visualize gene fusions
Charlie Murphy, Olivier Elemento·bioRxiv·Oct 14, 2016
- Entropy Fusion DNA: Alignment-Free Gene Fusion Detection through Entropy and Mutual Information Descriptors
Gerardo Benevento, Delfina Malandrino, … Rocco Zaccagnino·bioRxiv·May 30, 2026
- Meta-analysis of RNA-seq gene fusion detection tools: performance and variability across benchmarks
Iga Ostrowska, Tomasz Gambin·bioRxiv·Jan 20, 2025
- confFuse: high-confidence fusion gene detection across tumor entities
Zhiqin Huang, David Jones, … Marc Zapatka·Frontiers in GeneticsPeer-reviewed·Sep 29, 2017