scholarly journals Interaction-based feature selection algorithm outperforms polygenic risk score in predicting Parkinson's Disease status

Author(s):  
Joern E. Klinger ◽  
Charles N. J. Ravarani ◽  
Hannes A. Baukmann ◽  
Justin L. Cope ◽  
Erwin P. Boettinger ◽  
...  

Polygenic risk scores (PRS) aggregating results from genome-wide association studies are state of the art to predict the susceptibility to complex traits or diseases. Novel machine learning algorithms that use large amounts of data promise to find gene-gene interactions in order to build models with better predictive performance than PRS. Here, we present a data preprocessing step by using data-mining of contextual information to reduce the number of features, enabling machine learning algorithms to identify gene-gene interactions. We applied our approach to the Parkinson's Progression Markers Initiative (PPMI) dataset, an observational clinical study of 471 genotyped subjects (368 cases and 152 controls). With an AUC of 0.85 (95% CI = [0.72; 0.96]), the interaction-based prediction model outperforms the PRS (AUC of 0.58 (95% CI = [0.42; 0.81])). Furthermore, feature importance analysis of the model provided insights into the mechanism of Parkinson's Disease. For instance, the model revealed an interaction of previously described drug target candidate genes TMEM175 and GAPDHP25. These results demonstrate that interaction-based machine learning models can improve genetic prediction models and might provide an answer to the missing heritability problem.

Author(s):  
Angana Saikia ◽  
Vinayak Majhi ◽  
Masaraf Hussain ◽  
Sudip Paul ◽  
Amitava Datta

Tremor is an involuntary quivering movement or shake. Characteristically occurring at rest, the classic slow, rhythmic tremor of Parkinson's disease (PD) typically starts in one hand, foot, or leg and can eventually affect both sides of the body. The resting tremor of PD can also occur in the jaw, chin, mouth, or tongue. Loss of dopamine leads to the symptoms of Parkinson's disease and may include a tremor. For some people, a tremor might be the first symptom of PD. Various studies have proposed measurable technologies and the analysis of the characteristics of Parkinsonian tremors using different techniques. Various machine-learning algorithms such as a support vector machine (SVM) with three kernels, a discriminant analysis, a random forest, and a kNN algorithm are also used to classify and identify various kinds of tremors. This chapter focuses on an in-depth review on identification and classification of various Parkinsonian tremors using machine learning algorithms.


Author(s):  
Angana Saikia ◽  
Vinayak Majhi ◽  
Masaraf Hussain ◽  
Sudip Paul ◽  
Amitava Datta

Tremor is an involuntary quivering movement or shake. Characteristically occurring at rest, the classic slow, rhythmic tremor of Parkinson's disease (PD) typically starts in one hand, foot, or leg and can eventually affect both sides of the body. The resting tremor of PD can also occur in the jaw, chin, mouth, or tongue. Loss of dopamine leads to the symptoms of Parkinson's disease and may include a tremor. For some people, a tremor might be the first symptom of PD. Various studies have proposed measurable technologies and the analysis of the characteristics of Parkinsonian tremors using different techniques. Various machine-learning algorithms such as a support vector machine (SVM) with three kernels, a discriminant analysis, a random forest, and a kNN algorithm are also used to classify and identify various kinds of tremors. This chapter focuses on an in-depth review on identification and classification of various Parkinsonian tremors using machine learning algorithms.


2021 ◽  
Vol 28 ◽  
Author(s):  
Annamaria Landolfi ◽  
Carlo Ricciardi ◽  
Leandro Donisi ◽  
Giuseppe Cesarelli ◽  
Jacopo Troisi ◽  
...  

Background:: Parkinson’s disease is the second most frequent neurodegenerative disorder. Its diagnosis is challenging and mainly relies on clinical aspects. At present, no biomarker is available to obtain a diagnosis of certainty in vivo. Objective:: The present review aims at describing machine learning algorithms as they have been variably applied to different aspects of Parkinson’s disease diagnosis and characterization. Methods:: A systematic search was conducted on PubMed in December 2019, resulting in 230 publications obtained with the following search query: “Machine Learning” “AND” “Parkinson Disease”. Results:: the obtained publications were divided into 6 categories, based on different application fields: “Gait Analysis - Motor Evaluation”, “Upper Limb Motor and Tremor Evaluation”, “Handwriting and typing evaluation”, “Speech and Phonation evaluation”, “Neuroimaging and Nuclear Medicine evaluation”, “Metabolomics application”, after excluding the papers of general topic. As a result, a total of 166 articles were analyzed, after elimination of papers written in languages other than English or not directly related to the selected topics. Conclusion:: Machine learning algorithms are computer-based statistical approaches which can be trained and are able to find common patterns from big amounts of data. The machine learning approaches can help clinicians in classifying patients according to several variables at the same time.


2020 ◽  
Author(s):  
Ibrahim Karabayir ◽  
Samuel Goldman ◽  
Suguna Pappu ◽  
Oguz Akbilgic

Abstract Background: Parkinson’s Disease (PD) is a clinically diagnosed neurodegenerative disorder that affects both motor and non-motor neural circuits. Speech deterioration (hypokinetic dysarthria) is a common symptom, which often presents early in the disease course. Machine learning can help movement disorders specialists improve their diagnostic accuracy using non-invasive and inexpensive voice recordings.Method: We used “Parkinson Dataset with Replicated Acoustic Features Data Set” from the UCI-Machine Learning repository. The dataset included 44 speech-test based acoustic features from patients with PD and controls. We analyzed the data using various machine learning algorithms including Light and Extreme Gradient Boosting, Random Forest, Support Vector Machines, K-nearest neighborhood, Least Absolute Shrinkage and Selection Operator Regression, as well as logistic regression. We also implemented a variable importance analysis to identify important variables classifying patients with PD. Results: The cohort included a total of 80 subjects: 40 patients with PD (55% men) and 40 controls (67.5% men). Disease duration was 5 years or less for all subjects, with a mean Unified Parkinson’s Disease Rating Scale (UPDRS) score of 19.6 (SD 8.1), and none were taking PD medication. The mean age for PD subjects and controls was 69.6 (SD 7.8) and 66.4 (SD 8.4), respectively. Our best-performing model used Light Gradient Boosting to provide an AUC of 0.951 with 95% confidence interval 0.946-0.955 in 4-fold cross validation using only seven acoustic features.Conclusions: Machine learning can accurately detect Parkinson’s disease using an inexpensive and non-invasive voice recording. Light Gradient Boosting outperformed other machine learning algorithms. Such approaches could be used to inexpensively screen large patient populations for Parkinson’s disease.


2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Ibrahim Karabayir ◽  
Samuel M. Goldman ◽  
Suguna Pappu ◽  
Oguz Akbilgic

Abstract Background Parkinson’s Disease (PD) is a clinically diagnosed neurodegenerative disorder that affects both motor and non-motor neural circuits. Speech deterioration (hypokinetic dysarthria) is a common symptom, which often presents early in the disease course. Machine learning can help movement disorders specialists improve their diagnostic accuracy using non-invasive and inexpensive voice recordings. Method We used “Parkinson Dataset with Replicated Acoustic Features Data Set” from the UCI-Machine Learning repository. The dataset included 44 speech-test based acoustic features from patients with PD and controls. We analyzed the data using various machine learning algorithms including Light and Extreme Gradient Boosting, Random Forest, Support Vector Machines, K-nearest neighborhood, Least Absolute Shrinkage and Selection Operator Regression, as well as logistic regression. We also implemented a variable importance analysis to identify important variables classifying patients with PD. Results The cohort included a total of 80 subjects: 40 patients with PD (55% men) and 40 controls (67.5% men). Disease duration was 5 years or less for all subjects, with a mean Unified Parkinson’s Disease Rating Scale (UPDRS) score of 19.6 (SD 8.1), and none were taking PD medication. The mean age for PD subjects and controls was 69.6 (SD 7.8) and 66.4 (SD 8.4), respectively. Our best-performing model used Light Gradient Boosting to provide an AUC of 0.951 with 95% confidence interval 0.946–0.955 in 4-fold cross validation using only seven acoustic features. Conclusions Machine learning can accurately detect Parkinson’s disease using an inexpensive and non-invasive voice recording. Light Gradient Boosting outperformed other machine learning algorithms. Such approaches could be used to inexpensively screen large patient populations for Parkinson’s disease.


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