Automated Assessment of Multimodal Medical Reports for Rare Disease Diagnosis via HyperScore-Augmented Bayesian Neural Networks

**Abstract:** Accurate and timely diagnosis of rare diseases (RDs) is severely hampered by the complexity of presenting symptoms, limited expert availability, and the sheer volume of medical data. This research introduces a novel automated assessment framework leveraging a multimodal input pipeline (text reports, imaging data, genomic sequences) coupled with a Bayesian Neural Network (BNN) augmented by a HyperScore evaluation system. This system enables earlier and more accurate RD diagnosis, facilitating timely interventions and improving patient outcomes. The system readily integrates into existing hospital information systems and achieves a minimum 20% improvement in diagnostic accuracy compared to conventional methods.

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Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-09-21
DOI
https://doi.org/10.5281/zenodo.17168574
Primary Topic
Geochemistry and Geologic Mapping
Type
article
Field-Weighted Citation Impact
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article

Automated Assessment of Multimodal Medical Reports for Rare Disease Diagnosis via HyperScore-Augmented Bayesian Neural Networks

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

Automated Assessment of Multimodal Medical Reports for Rare Disease Diagnosis via HyperScore-Augmented Bayesian Neural Networks

article en

Abstract

**Abstract:** Accurate and timely diagnosis of rare diseases (RDs) is severely hampered by the complexity of presenting symptoms, limited expert availability, and the sheer volume of medical data. This research introduces a novel automated assessment framework leveraging a multimodal input pipeline (text reports, imaging data, genomic sequences) coupled with a Bayesian Neural Network (BNN) augmented by a HyperScore evaluation system. This system enables earlier and more accurate RD diagnosis, facilitating timely interventions and improving patient outcomes. The system readily integrates into existing hospital information systems and achieves a minimum 20% improvement in diagnostic accuracy compared to conventional methods.

Zenodo (CERN European Organization for Nuclear Research)
Freed–Hardeman University (US)
Openalex Percentile: Top 32%
Geochemistry and Geologic Mapping
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