Best practices for developing microbiome-based disease diagnostic classifiers through machine learning

The human gut microbiome, crucial in various diseases, can be utilized to develop diagnostic models through machine learning (ML). The specific tools and parameters used in model construction such as data preprocessing, batch effect removal and modeling algorithms can impact model performance and ge...

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Main Authors: Peikun Li, Min Li, Wei-Hua Chen
Format: Article
Language:English
Published: Taylor & Francis Group 2025-12-01
Series:Gut Microbes
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Online Access:https://www.tandfonline.com/doi/10.1080/19490976.2025.2489074
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author Peikun Li
Min Li
Wei-Hua Chen
author_facet Peikun Li
Min Li
Wei-Hua Chen
author_sort Peikun Li
collection DOAJ
description The human gut microbiome, crucial in various diseases, can be utilized to develop diagnostic models through machine learning (ML). The specific tools and parameters used in model construction such as data preprocessing, batch effect removal and modeling algorithms can impact model performance and generalizability. To establish an generally applicable workflow, we divided the ML process into three above-mentioned steps and optimized each sequentially using 83 gut microbiome cohorts across 20 diseases. We tested a total of 156 tool-parameter-algorithm combinations and benchmarked them according to internal- and external- AUCs. At the data preprocessing step, we identified four data preprocessing methods that performed well for regression-type algorithms and one method that excelled for non-regression-type algorithms. At the batch effect removal step, we identified the “ComBat” function from the sva R package as an effective batch effect removal method and compared the performance of various algorithms. Finally, at the ML algorithm selection step, we found that Ridge and Random Forest ranked the best. Our optimized work flow performed similarly comparing with previous exhaustive methods for disease-specific optimizations, thus is generally applicable and can provide a comprehensive guideline for constructing diagnostic models for a range of diseases, potentially serving as a powerful tool for future medical diagnostics.
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spelling doaj-art-a5844d9eebed4aeab9fe97926edd99bf2025-08-20T03:04:54ZengTaylor & Francis GroupGut Microbes1949-09761949-09842025-12-0117110.1080/19490976.2025.2489074Best practices for developing microbiome-based disease diagnostic classifiers through machine learningPeikun Li0Min Li1Wei-Hua Chen2Key Laboratory of Molecular Biophysics of the Ministry of Education, Hubei Key Laboratory of Bioinformatics and Molecular Imaging, Center for Artificial Intelligence Biology, Department of Bioinformatics and Systems Biology, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, ChinaKey Laboratory of Molecular Biophysics of the Ministry of Education, Hubei Key Laboratory of Bioinformatics and Molecular Imaging, Center for Artificial Intelligence Biology, Department of Bioinformatics and Systems Biology, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, ChinaKey Laboratory of Molecular Biophysics of the Ministry of Education, Hubei Key Laboratory of Bioinformatics and Molecular Imaging, Center for Artificial Intelligence Biology, Department of Bioinformatics and Systems Biology, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, ChinaThe human gut microbiome, crucial in various diseases, can be utilized to develop diagnostic models through machine learning (ML). The specific tools and parameters used in model construction such as data preprocessing, batch effect removal and modeling algorithms can impact model performance and generalizability. To establish an generally applicable workflow, we divided the ML process into three above-mentioned steps and optimized each sequentially using 83 gut microbiome cohorts across 20 diseases. We tested a total of 156 tool-parameter-algorithm combinations and benchmarked them according to internal- and external- AUCs. At the data preprocessing step, we identified four data preprocessing methods that performed well for regression-type algorithms and one method that excelled for non-regression-type algorithms. At the batch effect removal step, we identified the “ComBat” function from the sva R package as an effective batch effect removal method and compared the performance of various algorithms. Finally, at the ML algorithm selection step, we found that Ridge and Random Forest ranked the best. Our optimized work flow performed similarly comparing with previous exhaustive methods for disease-specific optimizations, thus is generally applicable and can provide a comprehensive guideline for constructing diagnostic models for a range of diseases, potentially serving as a powerful tool for future medical diagnostics.https://www.tandfonline.com/doi/10.1080/19490976.2025.2489074Gut microbiomemachine learningpatient stratificationdisease diagnostic modelsoptimal model construction workflow
spellingShingle Peikun Li
Min Li
Wei-Hua Chen
Best practices for developing microbiome-based disease diagnostic classifiers through machine learning
Gut Microbes
Gut microbiome
machine learning
patient stratification
disease diagnostic models
optimal model construction workflow
title Best practices for developing microbiome-based disease diagnostic classifiers through machine learning
title_full Best practices for developing microbiome-based disease diagnostic classifiers through machine learning
title_fullStr Best practices for developing microbiome-based disease diagnostic classifiers through machine learning
title_full_unstemmed Best practices for developing microbiome-based disease diagnostic classifiers through machine learning
title_short Best practices for developing microbiome-based disease diagnostic classifiers through machine learning
title_sort best practices for developing microbiome based disease diagnostic classifiers through machine learning
topic Gut microbiome
machine learning
patient stratification
disease diagnostic models
optimal model construction workflow
url https://www.tandfonline.com/doi/10.1080/19490976.2025.2489074
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AT minli bestpracticesfordevelopingmicrobiomebaseddiseasediagnosticclassifiersthroughmachinelearning
AT weihuachen bestpracticesfordevelopingmicrobiomebaseddiseasediagnosticclassifiersthroughmachinelearning