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Web Development of Direct-to-consumer Genetics Testing 4

Web Development of Direct-to-consumer Genetics Testing

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4th International Conference on Cybernetics and Intelligent System, ICORIS 2022

作者： Azizatikarna, Kians Parung, Deby Erina Amirullah, Dian Hidayat, Alam Ahmad Cenggoro, Tjeng Wawan Budiarto, Arif Simon Pardamean, Bens Genetics Indonesia Jakarta12940 Indonesia Bina Nusantara University Bioinformatics and Data Science Research Center Jakarta11480 Indonesia Computer Science Department School of Computer Science Bina Nusantara University Jakarta11480 Indonesia Bina Nusantara University BINUS Graduate Program - Master of Computer Science Computer Science Department Jakarta11480 Indonesia

ISBN: (纸本)9781665453950

As the cost of genetic testing becomes more affordable each year, direct-to-customer (DTC) genetic testing services witness rapid market growth. This has encouraged the development of an easy-to-use website application to optimize potential customers to obtain informed choice regarding the offered DTC genetic testing as well as purchasing information. We present a wireframing process as a part of the agile software development process to build a web portal prototype for an Indonesia-based genetic testing service called DNAku. The approach in building the prototype used in this case is a part of the Agile Software Development Method. In brief, the wireframing stage resulted in this work consists of three main important outcomes. The first one is the use case diagram as a blueprint of this web-based system. A site map is then proposed as an extended version of the use case diagram which visualizes the whole pages with the links. Finally, based on this site map a series of page mock-ups are designed using Hyper Text Marking Language (HTML) and Cascading Style Sheets (CSS). The result of the prototype can be used as the basis for the next development stage, which is the coding stage based on the collected feedback from users. Considering the continuous application development via the wireframing method by taking into account the cycle of feedbacks from involved parties, this approach can strengthen the infrastructure to sustain DTC genetic business model, which has a niche market in Indonesia. © 2022 IEEE.

关键词： Sales

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Semi-automated meningioma segmentation with bounding boxes 9th

Semi-automated meningioma segmentation with bounding boxes

引用

9th International Conference on computer science and Computational Intelligence, ICCSCI 2024

作者： Heryanto, Nur Adhianti Isnan, Mahmud Henry, Matthew Martianus Pardamean, Bens Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta11480 Indonesia Computer Science Department BINUS Graduate Program Bina Nusantara University Jakarta11480 Indonesia

Segmentation is manually performed by physicians, which takes considerable time and may be subject to observers. Automating this task can increase efficiency and consistency. Existing studies on meningioma segmentation used data from limited study centers, indicating the need for research on multi-center data to assess generalizability. In this work, two semi-automated methods with bounding box priors, LiteMedSAM and BBU-Net, are evaluated on the brain tumor segmentation (BraTS) 2023 meningioma dataset collected from five study-centers. Preprocessing included exclusion of small tumors, z-score normalization, and extraction of slices that contain tumors, generating 25,602 2D axial magnetic resonance imaging (MRI) scans. A fine-tuning strategy is adopted for LiteMedSAM while BBU-Net is trained from scratch. The models are evaluated using a five-fold cross-validation, with data split at the case level. Results show that while U-Net models can achieve performance close to LiteMedSAM, the foundation model has overall better performance, with more than 90% in all evaluation scores. © 2024 The Authors.

关键词： Magnetic resonance imaging

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LDA Topic Modeling for bioinformatics Terms in arXiv Documents 9th

LDA Topic Modeling for Bioinformatics Terms in arXiv Documen...

引用

9th International Conference on computer science and Computational Intelligence, ICCSCI 2024

作者： Karnyoto, Andrea Stevens Henry, Matthew Martianus Pardamean, Bens Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta11480 Indonesia Computer Science Department BINUS Graduate Program Bina Nusantara University Jakarta11480 Indonesia

A wide variety of disciplines contribute to bioinformatics research, including computer science, biology, chemistry, mathematics, and physics. This study determines the number of research articles published on arXiv classified as bioinformatics topics and the most frequently used bioinformatics terms using topic modeling, Latent Dirichlet Allocation (LDA). An algorithm based on LDA is used to discover topics hidden within large collections of documents through the use of statistical analysis. Our research examined 226453 articles on arXiv between January 2023 and January 2024. As a result, there are more than 10521 articles categorized into bioinformatics topics. Most commonly, 6352 documents are in the "Mathematical Physics" category. The second most popular category is "computer science," with 2950 documents. Accordingly, the terms 'RNA,' 'sequence,' 'tree,' and 'homology' are the three most commonly used terms in bioinformatics. The study of RNA plays a vital role in molecular biology;thus, the study of RNA is prevalent in bioinformatics. Sequential data refer to the order in which nucleotides or amino acids can be found in a DNA molecule or a protein. © 2024 The Authors.

关键词： arXiv bioinformatics Latent Dirichlet Allocation

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Comparison of K-Nearest Neighbor and Support Vector Regression for Predicting Oil Palm Yield 1

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

作者： Pardamean, Bens Suparyanto, Teddy Sinaga, Gokma Sahat Tua Elwirehardja, Gregorius Natanael Firmansyah, Erick Ginting, Candra Mawandha, Hangger Gahara Putra, Dian Pratama Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta11480 Indonesia Computer Science Department BINUS Graduate Program—Master of Computer Science Program Bina Nusantara University Jakarta11480 Indonesia Faculty of Agriculture Institute of Agriculture STIPER Yogyakarta55282 Indonesia

ISBN: (数字)9783031290787

ISBN: (纸本)9783031290770

With the high demand for oil palm production, implementations of Machine Learning (ML) technologies to provide accurate predictions and recommendations to assist oil palm plantation management tasks have become beneficial, such as in predicting annual oil palm. However, different geographical and meteorological conditions may result in different scales of influence for each variable. In this research, K-Nearest Neighbors (KNN) and Support Vector Regression (SVR) were used in predicting oil palm yield based on data collected in Riau, Indonesia. Pearson’s correlation coefficient was also calculated in selecting the input features for the models, whereas normalization and standardization were used in scaling the data. By setting the minimum absolute correlation threshold to 0.1 and using standardization, both models managed to obtain more than 0.81 R2, with SVR obtaining the overall best performance with 0.8709 R2, 1.372 MAE, and 1.8025 RMSE without hyperparameter fine-tuning. It was also discovered that the oil palm yield in the previous year is the variable with the most influence in estimating oil palm yield in the current year, followed by the number of plants and soil types. © The Author(s), under exclusive license to Springer Nature Switzerland AG 2023.

关键词： Machine learning

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Mapping short sequencing reads to distant relatives 11

Mapping short sequencing reads to distant relatives

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2011 ACM Conference on bioinformatics, Computational Biology and Biomedicine, ACM-BCB 2011

作者： Reynoso, Vinicio Putonti, Catherine Department of Biology Bioinformatics Program Loyola University Chicago 1032 W Sheridan Rd. Chicago IL 60660 United States Department of Computer Science Bioinformatics Program Loyola University Chicago 1032 W Sheridan Rd. Chicago IL 60660 United States

ISBN: (纸本)9781450307963

Numerous different algorithmic approaches have been developed to map the short-reads produced by next-generation sequencing technologies onto reference genome sequences. When sufficiently close reference genomes do not exist, less rigorous approaches must be taken, as is the case for analysis of diverse environmental samples. We have developed a new suite of data structures and algorithms specifically for the mapping of reads from environmental sequencing projects. A pipeline was developed which can rigorously map reads to genomes with many mismatches between the two. Using 50+ million reads generated from soil samples, we present the results of our performance analysis of our approach. Copyright © 2011 ACM.

关键词： Mapping

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Utilizing Semi-supervised Method in Predicting BRCA1 Pathogenicity Variants 8

Utilizing Semi-supervised Method in Predicting BRCA1 Pathoge...

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8th International Conference on computer science and Computational Intelligence, ICCSCI 2023

作者： Hidayat, Alam Ahmad Trinugroho, Joko Pebrianto Nirwantono, Rudi Sudigyo, Digdo Pardamean, Bens Department of Mathematics School of Computer Science Bina Nusantara University 11480 Indonesia Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta11480 Indonesia Computer Science Department BINUS Graduate Program Bina Nusantara University Jakarta11480 Indonesia

Quantifying the effect of mutations in the BRCA1 gene is useful for understanding their clinical consequences on breast cancer. Machine learning models can be applied to predict the landscape of protein variant effects that might not be always accessible by experiments. In this work, we propose a simple semi-supervised learning method using a Gaussian mixture model to predict ~90% of the unlabeled missense variants of the BRCA1 gene collected from the ClinVar database. High-quality embeddings are used as a feature of the protein sequences, extracted using the latest pre-trained transformer-based language protein model. A statistical test show that the protein embeddings are effective and robust for predicting pathogenicity. Further, the lower representations of the features are then fed into the semi-supervised model. The prediction performance of the model only for the labeled testing data achieves an AUC score and an accuracy of 79.27% and 71.58%, respectively. Using our defined pathogenic probability score, we find that ~94% of variants in our unlabeled dataset are well-separated into either benign or pathogenic classes according to that scoring. Our scores obtain a moderate Spearman rank correlation with the results of established unsupervised variant effect models. Finally, our approach can potentially be developed for more accurate and biologically reliable predictions of the variant effects. © 2023 The Authors. Published by Elsevier B.V.

关键词： embeddings language model mutation effect protein sequence semi-supervised learning

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Digital Twin (DT) Smart City for Air Quality Management 8

Digital Twin (DT) Smart City for Air Quality Management

引用

8th International Conference on computer science and Computational Intelligence, ICCSCI 2023

作者： Ariansyah, Dedy Isnan, Mahmud Rahutomo, Reza Pardamean, Bens Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta11480 Indonesia Information Systems Department School of Information Systems Bina Nusantara University Jakarta11480 Indonesia Computer Science Department BINUS Graduate Program-Master of Computer Science Program Bina Nusantara University Jakarta11480 Indonesia

Air pollution is a pressing issue in cities, and managing air quality poses a challenge for urban designers and decision-makers. This study proposes a Digital Twin (DT) Smart City integrated with Mixed Reality technology to enhance visualization and collaboration for addressing urban air pollution. The research adopts an applied research approach, with a focus on developing a DT framework. A use case of DT development for Jakarta, the capital of Indonesia, is presented. By integrating air quality data, meteorological information, traffic patterns, and urban infrastructure data, the DT provides a comprehensive understanding of air pollution dynamics. The visualization capabilities of the DT, utilizing Mixed Reality technology, facilitate effective decision-making and the identification of strategies for managing air quality. However, further research is needed to address data management challenges to build a DT for Smart City at scale. © 2023 The Authors. Published by Elsevier B.V.

关键词： Augmented Reality Digital Twin Mixed Reality Smart City

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Evolution Of SARS-CoV-2 In The Presence Of Vaccines.

Evolution Of SARS-CoV-2 In The Presence Of Vaccines.

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2022 IEEE International Conference on bioinformatics and Biomedicine, BIBM 2022

作者： Marathe, Vishwajeet Yan, Changhui North Dakota State University Department of Computer Scienceline FargoND United States North Dakota State University Department of Computer Science Genomics Phenomics and Bioinformatics Graduate Program FargoND United States

ISBN: (纸本)9781665468190

The COVID pandemic has caused tremendous loss worldwide. Now vaccines are the primary weapon to combat the pandemic. Understanding how SARS-CoV-2, the virus that causes the COVID, may mutate in the presence of the vaccines is critical for designing drugs and vaccines for future variants of the virus. In this study, we investigated the numbers of mutations that SARS-CoV-2 accumulated on each protein over time. We found that different proteins of the virus accumulated different levels of mutations and their mutation rates changed over time following different patterns. We also presented evidence that the mutation of the Spike protein might have been suppressed by the vaccines. This is the first time that such a relation was reported based on real world data. Although the discovery was not meant to be conclusive, this study sheds light onto how the virus may response to the vaccines. If confirmed by further studies, the discovery will have significant impacts on many fields, including drug and vaccine designs. © 2022 IEEE.

关键词： Coronavirus

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Data mining for epidemiology: The correlation of typhoid fever occurrence and environmental factors 7

Data mining for epidemiology: The correlation of typhoid fev...

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7th International Conference on computer science and Computational Intelligence, CSCI 2022

作者： Asadi, Faisal Trinugroho, Joko Pebrianto Hidayat, Alam Ahmad Rahutomo, Reza Pardamean, Bens Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta11480 Indonesia Information System Department School of Information System Bina Nusantara University Jakarta11480 Indonesia Computer Science Department BINUS Graduate Program-Master of Computer Science Program Bina Nusantara University Jakarta 11480 Indonesia

Typhoid fever is an endemic disease that burdens Indonesia and has a potentially fatal infection multisystem. Salmonella typhi bacterium is responsible for typhoid fever disease. Poor sanitation, crowding, and slums are the main factors of increasing typhoid fever incidences. Environmental factors directly connected to meteorological factors are the main factor in breeding the Salmonella typhi bacterium. This study aims to identify the correlation between meteorological parameters and typhoid fever disease occurrence. The study was carried out in Jakarta, Indonesia, and the Bureau of Meteorological, Climatology, and Geophysics (BMKG) provided the meteorological parameter data. In addition, the Jakarta health surveillance office provided information on typhoid fever hospitalizations from 2019 to 2021. Pearson's concept was utilized d to investigate the correlation between typhoid fever incidences and the meteorological parameters. Humidity, precipitation, and wind speed are the meteorological parameters that significantly affect in contribute to the occurrence of typhoid fever disease. These findings might be used as a reference for Indonesia's government in making public policy to prevent typhoid fever in Indonesia. © 2022 Elsevier B.V.. All rights reserved.

关键词： Data mining

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Cerulean: A hybrid assembly using high throughput short and long reads

Cerulean: A hybrid assembly using high throughput short and ...

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13th Workshop on Algorithms in bioinformatics, WABI 2013

作者： Deshpande, Viraj Fung, Eric D. K. Pham, Son Bafna, Vineet Department of Computer Science and Engineering University of California San Diego CA United States Bioinformatics Undergraduate Program Department of Bioengineering University of California San Diego CA United States

ISBN: (纸本)9783642404528

Genome assembly using high throughput data with short reads, arguably, remains an unresolvable task in repetitive genomes, since when the length of a repeat exceeds the read length, it becomes difficult to unambiguously connect the flanking regions. The emergence of third generation sequencing (Pacific Biosciences) with long reads enables the opportunity to resolve complicated repeats that could not be resolved by the short read data. However, these long reads have high error rate and it is an uphill task to assemble the genome without using additional high quality short reads. Recently, Koren et al. 2012 [1] proposed an approach to use high quality short reads data to correct these long reads and, thus, make the assembly from long reads possible. However, due to the large size of both dataset (short and long reads), error-correction of these long reads requires excessively high computational resources, even on small bacterial genomes. In this work, instead of error correction of long reads, we first assemble the short reads and later map these long reads on the assembly graph to resolve repeats. Contribution: We present a hybrid assembly approach that is both computationally effective and produces high quality assemblies. Our algorithm first operates with a simplified version of the assembly graph consisting only of long contigs and gradually improves the assembly by adding smaller contigs in each iteration. In contrast to the state-of-the-art long reads error correction technique, which requires high computational resources and long running time on a supercomputer even for bacterial genome datasets, our software can produce comparable assembly using only a standard desktop in a short running time. © 2013 Springer-Verlag.

关键词： Error correction

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