Automated Nucleotide Variant Annotation and Prioritization via Multi-Modal Data Fusion and HyperScore-Based Ranking in Liquid Biopsies

**Abstract:** Liquid biopsies offer a non-invasive approach to monitor cancer progression and treatment response. However, the sheer volume of genomic data generated, coupled with the increasing complexity of genomic alterations, presents a significant bottleneck in clinical translation. This study proposes a novel framework, Analysis and Prioritization Engine for Liquid Biopsies (APEL), which utilizes multi-modal data fusion, structured logical inference, and a HyperScore system to automate and prioritize nucleotide variant annotation and clinical relevance assessment in circulating tumor DNA (ctDNA) sequencing data. APEL achieves a 10x increase in annotation accuracy and prioritization speed compared to conventional manual review, facilitating faster and more informed clinical decision-making.

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Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-08-17
DOI
https://doi.org/10.5281/zenodo.16889450
Primary Topic
Geochemistry and Geologic Mapping
Type
article
Field-Weighted Citation Impact
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article

Automated Nucleotide Variant Annotation and Prioritization via Multi-Modal Data Fusion and HyperScore-Based Ranking in Liquid Biopsies

Zenodo (CERN European Organization for Nuclear Research)
Geochemistry and Geologic Mapping
article

Automated Nucleotide Variant Annotation and Prioritization via Multi-Modal Data Fusion and HyperScore-Based Ranking in Liquid Biopsies

article en

Abstract

**Abstract:** Liquid biopsies offer a non-invasive approach to monitor cancer progression and treatment response. However, the sheer volume of genomic data generated, coupled with the increasing complexity of genomic alterations, presents a significant bottleneck in clinical translation. This study proposes a novel framework, Analysis and Prioritization Engine for Liquid Biopsies (APEL), which utilizes multi-modal data fusion, structured logical inference, and a HyperScore system to automate and prioritize nucleotide variant annotation and clinical relevance assessment in circulating tumor DNA (ctDNA) sequencing data. APEL achieves a 10x increase in annotation accuracy and prioritization speed compared to conventional manual review, facilitating faster and more informed clinical decision-making.

Zenodo (CERN European Organization for Nuclear Research)
Freed–Hardeman University (US)
Peace, Justice and strong institutions
Openalex Percentile: Top 72%
Geochemistry and Geologic Mapping
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Automated Nucleotide Variant Annotation and Prioritization via Multi-Modal Data Fusion and HyperScore-Based Ranking in Liquid Biopsies · Zenodo (CERN European Organization for Nuclear Research) (2025) | TGRS Research Map | TGRS