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May 10, 2026Bioinformatics and Biology Insights0 citationsOpen Access

PathoAnalyzer-I: An Integrative Bioinformatics Platform for Chronic Disease Analysis

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AAAli AguerdFBFaiza BennisFCFatima Chegdani

Key Points

  • This research focuses on developing PathoAnalyzer-I, a platform aimed at improving analysis of chronic diseases through bioinformatics and machine learning.
  • Developed PathoAnalyzer-I, an in silico tool for analyzing chronic disease data from multiple sources.
  • Utilized a dataset of molecular information for 531 chronic diseases from GWAS Catalog, PubChem, and STRING-db.
  • Implemented a dual-prediction system with models for imputing risk alleles and predicting SNP–disease associations.
  • Achieved 77.6% accuracy in imputing missing risk alleles using the first prediction model.
  • The second model successfully predicted novel SNP–disease associations with 89.3% accuracy.
  • Identified key biomarkers and therapeutic targets for Alzheimer's disease, highlighting major pathological mechanisms.

Abstract

Chronic diseases impose a global health burden, contributing to high mortality and economic costs. Even with the recent surge in molecular data, these conditions remain largely incurable due to their biological complexity, data fragmentation, and analysis challenges, hindering early diagnosis, mechanistic understanding, and therapy. To address this, we developed PathoAnalyzer-I, an in silico platform that combines bioinformatics and machine learning to decipher chronic diseases. The tool requires no programming skills and provides a user-friendly interface for pathological analysis within a single framework. PathoAnalyzer-I uses a dataset of molecular data for 531 chronic diseases, from databases including the GWAS Catalog, PubChem, and STRING-db, enriched with machine learning–based predictions. Its dual-prediction system enhances molecular insights: one model imputes missing risk alleles with 77.6% accuracy, while a second predicts novel SNP–disease associations with 89.3% accuracy, providing avenues for future research. Applied to Alzheimer’s disease, the platform identified diagnostic biomarkers (e.g. rs6733839T), core genes in disease mechanisms (e.g. BIN1 , APOE , SLC24A4 , ABCA7 , PTK2B ), major pathological mechanisms like amyloid processing, synaptic dysfunction, and cellular vulnerability, as well as therapeutic molecules including Beta-Lapachone and preventive compounds such as curcumin. With its features, PathoAnalyzer-I enables scientists, regardless of their resources, to conduct in-depth in silico studies of chronic diseases.

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Cite This Study

Aguerd et al. (2026) studied this question.

synapsesocial.com/papers/6a0020eac8f74e3340f9bb1chttps://doi.org/10.1177/11779322261433663
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