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Machine Learning Approach for Single Nucleotide Polymorphism Selection in Genetic Testing Results

Procedia Computer Science 2023年 227卷 46-54页

作者： Joko Pebrianto Trinugroho Alam Ahmad Hidayat Mahmud Isnan Bens Pardamean Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta 11480 Indonesia Department of Mathematics School of Computer Science Bina Nusantara University Jakarta 11480 Indonesia Computer Science Department BINUS Graduate Program Bina Nusantara University Jakarta 11480 Indonesia

Lactose intolerance is a type of digestive problem that may threaten the population because milk and dairy products compose of nutrients that are essential for human body. Genetic tests possess a great potential to detect lactose intolerance as it can be used in children and even infants. However, a new approach to analyze the genetic test results is needed to elucidate the Single Nucleotide Polymorphisms (SNPs) that are related to lactose intolerance. In this work, we utilized the machine learning based feature selection to select the SNPs associated with lactose tolerance trait from genotyping samples of direct-to-customer (DTCG genetic tests, obtained from the public database. Recursive Feature Elimination (RFE) with XGBoost model was used to perform feature selection. We also compared three different models, such as XGBoost, support vector machine (SVM), and random forest (RF) for training the selected features. Our findings revealed that 20 SNPs (out of 3501) were chosen, with rs4394668 as the most important variables (F-score 0.009). Furthermore, when compared to the RF and SVM models, the XGBoost model had the highest accuracy (0.87). Further studies should be undertaken to elucidate how the selected SNPs may lead to the lactose intolerance trait.

关键词： lactose intolerance SNP genetic test feature selection

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Handling Data Sparseness in Gene Network Reconstruction

Handling Data Sparseness in Gene Network Reconstruction

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IEEE Symposium on Computational Intelligence and bioinformatics and Computational Biology (CIBCB)

作者： G.B. Bezerra T.V. Barra F.J. von Zuben L.N. de Castro Laboratory of Bioinformatics and Bio-Inspired Computing (LBiC) Department of Computer Engineering and Industrial Automation State University of Campinas-UNICAMP Sao Paulo Brazil Graduate Program on Informatics Catholic University of Santos Sao Paulo Brazil

One of the main problems related to regulatory network reconstruction from expression data concerns the small size and low quality of the available dataset. When trying to infer a model from little information it is necessary to give much more precedence to generalization, rather than specificity, otherwise, any attempt will be fated to overfitting. In this paper we address this issue by focusing on data sparseness and noisy information, and propose a density estimation technique that achieves regularized curves when data is scarce. We first compare the proposed method with the EM algorithm for mixture models on density estimation problems. Next, we apply the method, together with Bayesian networks, on realistic simulations of static gene networks, and compare the obtained results with the standard discrete Bayesian network model. We intend to demonstrate that adopting a discrete approach is not justifiable when only a small amount of information is available.

关键词： Intelligent networks Bayesian methods Genetics bioinformatics Computer networks Reverse engineering Cellular networks Noise robustness Laboratories Data engineering

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Machine Learning Implementations in Childhood Stunting Research: A Systematic Literature Review 8

Machine Learning Implementations in Childhood Stunting Resea...

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8th International Conference on Information Management and Technology, ICIMTech 2023

作者： Rahutomo, Reza Elwirehardja, Gregorius Natanael Isnan, Mahmud Asadi, Faisal Pardamean, Bens School of Information Systems Bina Nusantara University Information Systems Department Jakarta11480 Indonesia School of Computer Science Bina Nusantara University Computer Science Department Jakarta11480 Indonesia Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta11480 Indonesia Binus Graduate Program - Master of Computer Science Bina Nusantara University Computer Science Department Jakarta11480 Indonesia

ISBN: (纸本)9798350326093

Childhood stunting is a condition anticipated to affect the growth potential of children under the age of five. With numerous stunting researches that have been conducted, stunting datasets are now widely available to facilitate stunting research. This provides an opportunity to implement machine learning (ML) principles to produce a broader insight or a novel technique in stunting prediction. A systematic literature review is necessary to discover the landscape of machine learning implementation in the application domain as a preliminary study for creating an effective research roadmap. This paper presents a systematic literature review (SLR) of 22 curated manuscripts that focuses on identifying the ML models applied in stunting research, as well as the datasets used in such studies that were published during 2017-2022. The SLR process found that ML principles have been applied in stunting research since 2017, and the diversity of ML implementation has become more varied in 2021-2022. In terms of ML models, XGBoost and Random Forest are recognized as the two most utilized models, and stunting prediction is the most common ML implementation. The majority of stunting research utilizing ML has been conducted in Indonesia. Although national survey data has been the most commonly utilized dataset in stunting research, researchers in Indonesia have shown a preference for utilizing data from regional or independent surveys. This study will be followed by developing a classifier model for stunted children using XGBoost and Random Forest algorithms. The model will be trained on a dataset generated from StuntingDB. © 2023 IEEE.

关键词： Machine learning

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Database Design for Pre-Eclampsia Case Administration 8

Database Design for Pre-Eclampsia Case Administration

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8th International Conference on Information Technology and Digital Applications, ICITDA 2023

作者： Asadi, Faisal Elwirehardja, Gregorius Natanael Trinugroho, Joko Pebrianto Rahutomo, Reza Pardamean, Bens School of Computer Science Bina Nusantara University Computer Science Department Jakarta11480 Indonesia Bina Nusantara University Bioinformatics and Data Science Research Center Jakarta11480 Indonesia School of Information Systems Bina Nusantara University Information System Department Jakarta11480 Indonesia Bina Nusantara University Binus Graduate Program Master of Computer Science Computer Science Department Jakarta11480 Indonesia

ISBN: (纸本)9798350344691

The Ministry of Health of Indonesia has referred to pre-eclampsia as one of the most severe diseases affecting women. As an urgency, it is crucial to administrate pre-eclampsia cases for disease prevention as a long-term national healthcare strategy. Regarding health science, case data was significant in developing research and innovation. However, the main problem regarding pre-eclampsia case administration is data handling, recording, and management incompetence. Hence, this research proposed a conceptual design of a database for pre-eclampsia case administration. The proposed design covered conceptual, logical, and physical design. We elaborate the concept into three concepts of pre-eclampsia disease: pre-treatment, treatment, and post-treatment. This study proposed a solution to gain more data and study pre-eclampsia disease in Indonesia. © 2023 IEEE.

关键词： Medical informatics

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Classification of Multiple Time-Series via Boosting

Classification of Multiple Time-Series via Boosting

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IEEE Digital Signal Processing Workshop

作者： Patrick L. Harrington Arvind Rao Alfred O., Hero Bioinformatics Graduate Program University of Michigan Ann Arbor MI USA Lane Center of Computational Biology Carnegie Mellon University Pittsburgh PA USA Department of Statistics University of Michigan Ann Arbor MI USA

Much of modern machine learning and statistics research consists of extracting information from high-dimensional patterns. Often times, the large number of features that comprise this high-dimensional pattern are themselves vector valued, corresponding to sampled values in a time-series. Here, we present a classification methodology to accommodate multiple time-series using boosting. This method constructs an additive model by adaptively selecting basis functions consisting of a discriminating feature's full time-series. We present the necessary modifications to fisher linear discriminant analysis and least-squares, as base learners, to accommodate the weighted data in the proposed boosting procedure. We conclude by presenting the performance of our proposed method against a synthetic stochastic differential equation data set and a real world data set involving prediction of cancer patient susceptibility for a particular chemoradiotherapy.

关键词： Boosting Statistics Vectors Linear discriminant analysis Gene expression bioinformatics Computational biology Machine learning Data mining Stochastic processes

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A Path Analysis Model for Explaining Factors That Influence the Use of Masker among Commuting Workers Using KRL Commuter Line Bogor Jakarta

Research Square

引用

Research Square 2021年

作者： Kusmawan, David Andari, Shofi Indri Hapsari, S. Faculty Medicine and Health Science Universitas Jambi Indonesia Bioinformatics and Computational Biology Graduate Program Iowa State University United States Occupational Health and Safety Department Faculty of Public Health Universitas Indonesia Indonesia

Jakarta is one of the most air polluted cities in the world, it can increase the risk of healthy of commuting worker. As one of the most air polluted cities in the world, Jakarta is at high risk of its commuting worker’s health. They are at risk of being exposed to pollutant. This study aims to determine the factors influencing directly and indirectly to healthy behavior (using masker) for commuting workers who use the KRL Commuterline Bogor - Jakarta. A total of 155 respondents participated in the study and the collected data were then analyzed using descriptive and path analysis. Commuters are aware of the hazard potential related to air pollution during commuting were 137 people (88.4%). Commuters with good perception of pollution were 104 people (67.1%). Commuters used masker during commuting was 125 people (80.6%). Healthy behavior (using masker) in commuting worker using KRL Commuter Line were affected by some factors both directly and indirectly. Knowledge and commuting experience toward healthy behavior using masker were two variables with a significant direct influence on healthy behavior using masker, and knowledge was also the only mediated variable with a significant indirect effect of education to healthy behavior (using masker). © 2021, CC BY.

关键词： Pollution

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Society with Trust: A Scientometrics Review of Zero-Knowledge Proof Advanced Applications in Preserving Digital Privacy for Society 5.0 1

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International Conference on Innovative Technologies in Intelligent Systems and Industrial Applications, CITISIA 2022

作者： Dominic, Nicholas Pratama, Naufal Rizqi Cornelius, Kenny Senewe, Shavellin Herliman Pardamean, Bens Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta11480 Indonesia Information System Department School of Information Systems Bina Nusantara University Jakarta11480 Indonesia Department of Computer Science Universitas Multimedia Nusantara Tangerang15111 Indonesia Psychology Department Faculty of Humanities Bina Nusantara University Jakarta11480 Indonesia BINUS Graduate Program Bina Nusantara University Jakarta11480 Indonesia

ISBN: (数字)9783031290787

ISBN: (纸本)9783031290770

Society 5.0 focuses on human productivity in the midst of advanced technological services. While the concept has human trust at its core, technology development is now leading to zero-trust architecture. In this scientometrics review, 107 selected papers were analyzed to obtain the nature of the Zero-knowledge Proof (ZKP) theory and its advanced applications to favor digital privacy in greater society. With the common literature review strategy, it was found that the most citations in this field appeared in 2018, with IEEE, Springer, and Elsevier as the top three publishers. By affiliations, China and United States are both leading countries where the researcher comes from. And as the positive trend emerged, the ZKP mechanism will keep being leveraged as one of the cryptographic toolsets in the cloud services, Internet of Things (IoT), smart contracts, healthcare, electronic systems, and many other industrial needs. © The Author(s), under exclusive license to Springer Nature Switzerland AG 2023.

关键词： Smart contract

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Ecological Show Cave and Wild Cave: Negative Binomial Gllvm's Arthropod Community Modelling 3

Ecological Show Cave and Wild Cave: Negative Binomial Gllvm'...

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3rd International Conference on Computer Science and Computational Intelligence, ICCSCI 2018

作者： Caraka, Rezzy Eko Shohaimi, Shamarina Kurniawan, Isma Dwi Herliansyah, Riki Budiarto, Arif Sari, Shinta Purnama Pardamean, Bens Bioinformatics and Data Science Research Center Bina Nusantara University Indonesia Department of Statistics Padjadjaran University Indonesia Department of Biology UIN Sunan Gunung Djati Bandung Indonesia Kalimantan Indonesia Computer Science Department School of Computer Science Bina Nusantara University Jakarta11480 Indonesia Computer Science Department BINUS Graduate Program Master of Computer Science Bina Nusantara University Jakarta11480 Indonesia

Ecology is a branch of biology that studies the interaction and relationship between organisms and their environment. Abundance, distribution of organisms and patterns of biodiversity are great interests for many ecologists. One of interesting ecosystems to be studied is a cave. A cave has a typical environment character with a vulnerable ecosystem. Many caves in Indonesia, particularly in Gunungsewu karst area have been developed into tourist objects (show caves) and managed imprudently. Such cave management has potential to harm the environment and leads to ecosystem destruction. Arthropods are the most abundance fauna in cave that play critical roles in maintaining cave ecosystems equilibrium. In the heart of statistical ecology, we need to analyze the differences on Arthropods community and abiotic (climatic-edaphic) parameters among show caves and wild caves. Statistical techniques are needed for the extraction of such information. GLLVM is one method that is able to explain spatial-based information and is particularly suitable for ecology. In this paper, we use negative binomial models to see the differences on spatial patterns of predator and decomposer Arthropods, also characteristic of edaphic and climatic in each cave. © 2018 The Authors. Published by Elsevier Ltd.

关键词： Caves

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Impact of CLAHE-based image enhancement for diabetic retinopathy classification through deep learning 7

Impact of CLAHE-based image enhancement for diabetic retinop...

引用

7th International Conference on Computer Science and Computational Intelligence, CSCI 2022

作者： Hayati, Mira Muchtar, Kahlil Roslidar Maulina, Novi Syamsuddin, Irfan Elwirehardja, Gregorius Natanael Pardamean, Bens Department of Electrical and Computer Engineering Universitas Syiah Kuala Banda Aceh23111 Indonesia Universitas Syiah Kuala Banda Aceh23111 Indonesia Faculty of Medicine Universitas Syiah Kuala Banda Aceh23111 Indonesia Department of Computer and Networking Engineering Politeknik Negeri Ujung Pandang Makassar90245 Indonesia Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta 11480 Indonesia Computer Science Department BINUS Graduate Program-Master of Computer Science Program Bina Nusantara University Jakarta 11480 Indonesia

Diabetic retinopathy (DR) is a type of diabetes mellitus that attacks the retina of the eye. DR will cause patients to experience blindness slowly. Generally, DR can be detected by using a special instrument called an ophthalmoscope to view the inside of the eyeball. However, in conditions where there is a very small difference between the normal image and the DR image, computer-based assistance is needed for maximizing image reading value. In this research, a method of image quality improvement will be carried out which will then be integrated with a classification algorithm based on deep learning. The results of image improvement using Contrast Limited Adaptive Histogram Equalization (CLAHE) shows that the average accuracy of the method on several models is very competitive, 91% for the VGG16 model, 95% for InceptionV3, and 97% for EfficientNet compared to the results original image which only has an accuracy of 87% for VGG16 model, 90% for InceptionV3 model, and 95% for EfficientNet. However, in ResNet34 better accuracy is obtained in the original image with an accuracy of 95% while in the CLAHE image the accuracy value is only 84%. The results of this comprehensive evaluation and recommendation of famous backbone networks can be useful in the computer-Aided diagnosis of diabetic retinopathy. © 2022 Elsevier B.V.. All rights reserved.

关键词： Image enhancement

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Automating Care by Self-maintainability for Full Laboratory Automation

arXiv

引用

arXiv 2025年

作者： Ochiai, Koji Tahara-Arai, Yuya Kato, Akari Kaizu, Kazunari Kariyazaki, Hirokazu Umeno, Makoto Takahashi, Koichi Kanda, Genki N. Ozaki, Haruka Laboratory for Biologically Inspired Computing RIKEN Center for Biosystems Dynamics Research 6-7-1 Minatojima Minamimachi Chuo-ku Hyogo Kobe650-0047 Japan Bioinformatics Laboratory Institute of Medicine University of Tsukuba 1-1-1 Tennodai Ibaraki Tsukuba305-8577 Japan Ph.D. Program in Humanics School of Integrative and Global Majors University of Tsukuba 1-1-1 Tennodai Ibaraki Tsukuba305-8577 Japan Laboratory Automation Suppliers’ Association 2-1-8 Minatojima Minamimachi Chuo-ku Hyogo Kobe650-0047 Japan Cell Modeling and Simulation Group Exploratory Research Center on Life and Living Systems National Institutes of Natural Sciences 5-1 Higashiyama Myodaiji Aichi Okazaki444-8787 Japan Robotics Division YASKAWA Electric Corporation 2-1 Kurosaki Shiroishi Yahatanishi-ku Kitakyushu Fukuoka806-0004 Japan BAIKEIDO LLC 3-8-1 Asano Kokurakita-ku Kitakyushu Fukuoka802-0001 Japan Graduate School of Media and Governance Keio University 5322 Endo Fujisawa-shi Kanagawa252-0882 Japan Medical Research Laboratory Institute of Integrated Research Institute of Science Tokyo 1-5-45 Yushima Bunkyo-ku Tokyo113-8519 Japan Center for Artificial Intelligence Research University of Tsukuba 1-1-1 Tennodai Ibaraki Tsukuba305-8577 Japan

The automation of experiments in life sciences and chemistry has significantly advanced with the development of various instruments and AI technologies. However, achieving full laboratory automation, where experiments conceived by scientists are seamlessly executed in automated laboratories, remains a challenge. We identify the lack of automation in planning and operational tasks—critical human-managed processes collectively termed "care"—as a major barrier. Automating care is the key enabler for full laboratory automation. To address this, we propose the concept of self-maintainability (SeM): the ability of a laboratory system to autonomously adapt to internal and external disturbances, maintaining operational readiness akin to living cells. A SeM-enabled laboratory features autonomous recognition of its state, dynamic resource and information management, and adaptive responses to unexpected conditions. This shifts the planning and execution of experimental workflows, including scheduling and reagent allocation, from humans to the system. We present a conceptual framework for implementing SeM-enabled laboratories, comprising three modules—Requirement manager, Labware manager, and Device manager—and a Central manager. SeM not only enables scientists to execute envisioned experiments seamlessly but also provides developers with a design concept that drives the technological innovations needed for full automation. Copyright © 2025, The Authors. All rights reserved.

关键词： Information management

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