Automated Retrotransposon Insertional Mutagenesis Risk Assessment via Multi-Modal Data Fusion and HyperScore Profiling
**Abstract:** Retrotransposons pose a significant threat to genomic stability, driving insertional mutagenesis and contributing to disease progression. Current risk assessment methods are often laborious, subject to human bias, and lack predictive power. This work introduces a novel framework, utilizing a multi-modal data ingestion and evaluation pipeline coupled with a HyperScore profiling system, to automate and significantly improve the accuracy and efficiency of retrotransposon-driven mutagenesis risk assessment. Our system combines genomic sequence data, transcriptomic profiles, epigenetic marks, and reported clinical phenotypes to generate a risk profile with quantitative metrics derived from rigorously validated analysis techniques, boasting a potential >10x improvement in throughput and predictive accuracy compared to standard manual analysis, with impactful implications for personalized medicine and drug development.
Institutions
- Freed–Hardeman University (US)
Publication Details
- Journal
- Zenodo (CERN European Organization for Nuclear Research)
- Published
- 2025-08-13
- DOI
- https://doi.org/10.5281/zenodo.16849256
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00