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.

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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
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article

Automated Retrotransposon Insertional Mutagenesis Risk Assessment via Multi-Modal Data Fusion and HyperScore Profiling

Zenodo (CERN European Organization for Nuclear Research)
Genomics and Rare Diseases
article

Automated Retrotransposon Insertional Mutagenesis Risk Assessment via Multi-Modal Data Fusion and HyperScore Profiling

article en

Abstract

**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.

Zenodo (CERN European Organization for Nuclear Research)
Freed–Hardeman University (US)
Good health and well-being
Openalex Percentile: Top 48%
Genomics and Rare Diseases
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Automated Retrotransposon Insertional Mutagenesis Risk Assessment via Multi-Modal Data Fusion and HyperScore Profiling · Zenodo (CERN European Organization for Nuclear Research) (2025) | TGRS Research Map | TGRS