Accurate Blood-Based Diagnostic Biosignatures for Alzheimer’s Disease via Automated Machine Learning

Alzheimer’s disease (AD) is the most common form of neurodegenerative dementia and its timely diagnosis remains a major challenge in biomarker discovery. In the present study, we analyzed publicly available high-throughput low-sample -omics datasets from studies in AD blood, by the AutoML technology...

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Main Authors: Makrina Karaglani, Krystallia Gourlia, Ioannis Tsamardinos, Ekaterini Chatzaki
Format: Article
Language:English
Published: MDPI AG 2020-09-01
Series:Journal of Clinical Medicine
Subjects:
Online Access:https://www.mdpi.com/2077-0383/9/9/3016
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spelling doaj-9ffe0e3d130649bf9e8fd021bfd9701a2020-11-25T03:02:52ZengMDPI AGJournal of Clinical Medicine2077-03832020-09-0193016301610.3390/jcm9093016Accurate Blood-Based Diagnostic Biosignatures for Alzheimer’s Disease via Automated Machine LearningMakrina Karaglani0Krystallia Gourlia1Ioannis Tsamardinos2Ekaterini Chatzaki3Laboratory of Pharmacology, Medical School, Democritus University of Thrace, 68100 Alexandroupolis, GreeceDepartment of Computer Science, University of Crete, GR-700 13 Vassilika Vouton, GreeceGnosis Data Analysis PC, Science and Technology Park of Crete, N. Plastira 100, GR-700 13 Vassilika Vouton, GreeceLaboratory of Pharmacology, Medical School, Democritus University of Thrace, 68100 Alexandroupolis, GreeceAlzheimer’s disease (AD) is the most common form of neurodegenerative dementia and its timely diagnosis remains a major challenge in biomarker discovery. In the present study, we analyzed publicly available high-throughput low-sample -omics datasets from studies in AD blood, by the AutoML technology Just Add Data Bio (JADBIO), to construct accurate predictive models for use as diagnostic biosignatures. Considering data from AD patients and age–sex matched cognitively healthy individuals, we produced three best performing diagnostic biosignatures specific for the presence of AD: A. A 506-feature transcriptomic dataset from 48 AD and 22 controls led to a miRNA-based biosignature via Support Vector Machines with three miRNA predictors (AUC 0.975 (0.906, 1.000)), B. A 38,327-feature transcriptomic dataset from 134 AD and 100 controls led to six mRNA-based statistically equivalent signatures via Classification Random Forests with 25 mRNA predictors (AUC 0.846 (0.778, 0.905)) and C. A 9483-feature proteomic dataset from 25 AD and 37 controls led to a protein-based biosignature via Ridge Logistic Regression with seven protein predictors (AUC 0.921 (0.849, 0.972)). These performance metrics were also validated through the JADBIO pipeline confirming stability. In conclusion, using the automated machine learning tool JADBIO, we produced accurate predictive biosignatures extrapolating available low sample -omics data. These results offer options for minimally invasive blood-based diagnostic tests for AD, awaiting clinical validation based on respective laboratory assays. They also highlight the value of AutoML in biomarker discovery.https://www.mdpi.com/2077-0383/9/9/3016Alzheimer’s diseasepredictive modelmachine learningbloodclassifier
collection DOAJ
language English
format Article
sources DOAJ
author Makrina Karaglani
Krystallia Gourlia
Ioannis Tsamardinos
Ekaterini Chatzaki
spellingShingle Makrina Karaglani
Krystallia Gourlia
Ioannis Tsamardinos
Ekaterini Chatzaki
Accurate Blood-Based Diagnostic Biosignatures for Alzheimer’s Disease via Automated Machine Learning
Journal of Clinical Medicine
Alzheimer’s disease
predictive model
machine learning
blood
classifier
author_facet Makrina Karaglani
Krystallia Gourlia
Ioannis Tsamardinos
Ekaterini Chatzaki
author_sort Makrina Karaglani
title Accurate Blood-Based Diagnostic Biosignatures for Alzheimer’s Disease via Automated Machine Learning
title_short Accurate Blood-Based Diagnostic Biosignatures for Alzheimer’s Disease via Automated Machine Learning
title_full Accurate Blood-Based Diagnostic Biosignatures for Alzheimer’s Disease via Automated Machine Learning
title_fullStr Accurate Blood-Based Diagnostic Biosignatures for Alzheimer’s Disease via Automated Machine Learning
title_full_unstemmed Accurate Blood-Based Diagnostic Biosignatures for Alzheimer’s Disease via Automated Machine Learning
title_sort accurate blood-based diagnostic biosignatures for alzheimer’s disease via automated machine learning
publisher MDPI AG
series Journal of Clinical Medicine
issn 2077-0383
publishDate 2020-09-01
description Alzheimer’s disease (AD) is the most common form of neurodegenerative dementia and its timely diagnosis remains a major challenge in biomarker discovery. In the present study, we analyzed publicly available high-throughput low-sample -omics datasets from studies in AD blood, by the AutoML technology Just Add Data Bio (JADBIO), to construct accurate predictive models for use as diagnostic biosignatures. Considering data from AD patients and age–sex matched cognitively healthy individuals, we produced three best performing diagnostic biosignatures specific for the presence of AD: A. A 506-feature transcriptomic dataset from 48 AD and 22 controls led to a miRNA-based biosignature via Support Vector Machines with three miRNA predictors (AUC 0.975 (0.906, 1.000)), B. A 38,327-feature transcriptomic dataset from 134 AD and 100 controls led to six mRNA-based statistically equivalent signatures via Classification Random Forests with 25 mRNA predictors (AUC 0.846 (0.778, 0.905)) and C. A 9483-feature proteomic dataset from 25 AD and 37 controls led to a protein-based biosignature via Ridge Logistic Regression with seven protein predictors (AUC 0.921 (0.849, 0.972)). These performance metrics were also validated through the JADBIO pipeline confirming stability. In conclusion, using the automated machine learning tool JADBIO, we produced accurate predictive biosignatures extrapolating available low sample -omics data. These results offer options for minimally invasive blood-based diagnostic tests for AD, awaiting clinical validation based on respective laboratory assays. They also highlight the value of AutoML in biomarker discovery.
topic Alzheimer’s disease
predictive model
machine learning
blood
classifier
url https://www.mdpi.com/2077-0383/9/9/3016
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