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IDH1 fine-tunes cap-dependent translation initiation

Journal of Molecular Cell Biology 2019年第10期11卷 816-828页

作者： Lichao Liu JYuyang Lu Fajin Li Xudong Xing Tong Li Xuerui Yang Xiaohua Shen Tsinghua-Peking Center for Life Sciences School of Medicine and School of Life SciencesTsinghua UniversityBeijing 100084China MOE Key Laboratory of Bioinformatics Center for Synthetic Systems BiologySchool of Life SciencesTsinghua UniversityBeijing 100084China Peking University-Tsinghua University-National Institute of Biological Sciences Joint Graduate Program School of Life SciencesTsinghua UniversityBeijing 100084China

The metabolic enzyme isocitrate dehydrogenase 1(IDH1)catalyzes the oxidative decarboxylation of isocitrate to a-ketoglutarate(a-KG).Its mutation often leads to aberrant gene expression in ***1 was reported to bind thousands of RNA transcripts in a sequence-dependent manner;yet,the functional significance of this RNA-binding activity remains ***,we report that IDH1 promotes mRNA translation via direct associations with polysome mRNA and translation *** proteomic analysis in embryonic stem cells(ESCs)revealed strikingenrichmentof ribosomal proteins and translation regulators in IDH1-bound protein *** performed ribosomal profiling and analyzed mRNA transcripts that are associated with actively translating ***,knockout of IDH1 in ESCs led to significant downregulation of polysome-bound mRNA in IDH1 targets and subtle upregulation of ribosome densities at the start codon,indicating inefficient translation initiation upon loss of *** IDH1 to a luciferase mRNA via the MS2-MBP system promotes luciferase translation,independently of the catalytic activity of ***,IDH1 fails to enhance luciferase translation driven by an internal ribosome entry ***,these results reveal an unforeseen role of IDH1 in fine-tuning cap-dependent translation via the initiation step.

关键词： IDH1 proteomic interactome translation regulation RNA-binding protein

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SRECG: ECG Signal Super-Resolution Framework for Portable/Wearable Devices in Cardiac Arrhythmias Classification

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IEEE Transactions on Consumer Electronics 2023年第3期69卷 250-260页

作者： Chen, Tsai-Min Tsai, Yuan-Hong Tseng, Huan-Hsin Liu, Kai-Chun Chen, Jhih-Yu Huang, Chih-Han Li, Guo-Yuan Shen, Chun-Yen Tsao, Yu National Taiwan University and Academia Sinica Graduate Program of Data Science Taipei106319 Taiwan Academia Sinica Research Center for Information Technology Innovation Taipei115 Taiwan Taiwan Artificial Intelligence Academy Foundation Program of Taiwan AI Academy New Taipei22065 Taiwan Artificial Intelligence Foundation Technology Development Center New Taipei24158 Taiwan Graduate Institute of Biomedical Electronics and Bioinformatics National Taiwan University Taipei10617 Taiwan Institute of Biomedical Sciences Academia Sinica Taipei115 Taiwan National Taiwan University Department of Mathematics Taipei10617 Taiwan

A combination of cloud-based deep learning (DL) algorithms with portable/wearable (P/W) devices has been developed as a smart heath care system to support automatic cardiac arrhythmias (CAs) classification using electrocardiography (ECG). However, long-term and continuous ECG monitoring is challenging because of limitations of batteries and transmission bandwidth of P/W devices while incorporated with consumer electronics (CE). A feasible approach to address this challenge is to decrease sampling rates. However, low sampling rates lead to low-resolution signals that hinder the CAs classification performance. In this study, we propose a DL-based ECG signal super-resolution framework (called SRECG) to enhance low-resolution ECG signals by jointly considering the accuracies when applied to the DL-based high-resolution multiclass classifier (HMC) of CAs. In our experiments, we downsampled the ECG signals from the CPSC2018 dataset and evaluated their HMC accuracies with and without the SRECG. Experimental results show that SRECG can well improve the HMC accuracies as compared to traditional interpolation methods. Moreover, approximately half of the CAs classification accuracies of HMC were maintained within the enhanced ECG signals by SRECG. The promising results confirm that SRECG can be suitably used to enhance low-resolution ECG signals from P/W devices with CE to improve their cloud-based HMC performances. © 1975-2011 IEEE.

关键词： Electrocardiography

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Large-scale analysis of human heavy chain V(D)J recombination patterns

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Immunome Research 2008年第1期4卷 1-10页

作者： Volpe, Joseph M Kepler, Thomas B Center for Computational Immunology Duke University Durham NC United States Department of Immunology Duke Univeristy Medical Center Durham NC United States Department of Biostatistics and Bioinformatics Duke Univeristy Medical Center Durham NC United States Institute of Statistics and Decision Sciences Duke Univeristy Durham NC United States Computational Biology and Bioinformatics Graduate Program Institute for Genome Sciences and Policy Duke Univeristy Durham NC United States

Background. The processes involved in the somatic assembly of antigen receptor genes are unique to the immune system and are driven largely by random events. Subtle biases, however, may exist and provide clues to the molecular mechanisms involved in their assembly and selection. Large-scale efforts to provide baseline data about the genetic characteristics of immunoglobulin (Ig) genes and the mechanisms involved in their assembly have recently become possible due to the rapid growth of genetic databases. Results. We gathered and analyzed nearly 6,500 productive human Ig heavy chain genes and compared them with 325 non-productive Ig genes that were originally rearranged out of frame and therefore incapable of being biased by selection. We found evidence for differences in n-nucleotide tract length distributions which have interesting interpretations for the mechanisms involved in n-nucleotide polymerization. Additionally, we found striking statistical evidence for pairing preferences among D and J segments. We present a statistical model to support our hypothesis that these pairing biases are due to multiple sequential D-to-J rearrangements. Conclusion. We present here the most precise estimates of gene segment usage frequencies currently available along with analyses regarding n-nucleotide distributions and D-J segment pair preferences. Additionally, we provide the first statistical evidence that sequential D-J recombinations occur at the human heavy chain locus during B-cell ontogeny with an approximate frequency of 20%.

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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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ConvNeXt Model for Breast Cancer Image Classification 6

ConvNeXt Model for Breast Cancer Image Classification

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6th International Conference on Cybernetics and Intelligent System, ICORIS 2024

作者： Setiawan, Devin Karnyoto, Andrea Stevens Intan, Indo Pardamean, Bens Department of Electrical Engineering and Computer Science University of Kansas Lawrence United States Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta Indonesia Department of Informatics Engineering Universitas Dipa Makassar Makassar Indonesia Computer Science Department BINUS Graduate Program Computer Science Program Bina Nusantara University Jakarta Indonesia

ISBN: (纸本)9798331539603

Breast cancer is an occurrence of cancer that attacks breast tissue and is the most common cancer among women worldwide, affecting one in eight women. In this modern world, breast cancer image classification simplifies the process of analyzing, providing objective and accurate results. By leveraging machine learning algorithms and computer vision techniques, we developed breast cancer detection. The dataset is histopathology dataset from BreakHis and UNHAS Hospital. We chose the ConvNeXt-Tiny model then modified the classifier head as the proposed method. Before the dataset is processed by the model, we augment the images by applying random horizontal and vertical flips, adjustments to brightness, contrast, saturation, and hue using color jitter. The augmentation process simulates real-world variance and enhances the model's ability to generalize to unseen data. Our proposed model gained better performance (accuracy, F1-Score) results compared two other techniques to VGG16 and SVM. According to our experiments, the F1-Score for the ConvNeXt-Tiny model with classifier head modification is higher at 0.9516, than the gain for VGG16 at 0.9292, and the gain for the SVM at 0.83. © 2024 IEEE.

关键词： Lung cancer

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Variational quantum neural network with optimized ansatz for predicting malignant ventricular arrhythmias

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Procedia Computer Science 2024年 245卷 109-116页

作者： Nicholas Dominic Bens Pardamean 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

Preventive strategies should be the utmost priority when dealing with diverse patients suffering from malignant ventricular arrhythmia (MVA) that can lead to sudden cardiac death (SCD). Electrocardiogram (ECG) data is commonly used as a predictor for MVA predictive models. In this study, all ECG signals from MIT-BIH databases were fragmented into five-minute durations with a frequency sampling of 128 Hz. To solve the absence of hybrid optimizations in Machine Learning (ML) models, a novel Variational Quantum Neural Network (VQNN) was invented. Empowered by deep learning capabilities and optimized quantum circuits design, VQNN achieved remarkable performances designated by an accuracy of up to 95.1%, a perfect 100% recall, and a 95.2% score of the area under the Receiver Operating Characteristic curve (AUC ROC) with Conjugate Gradient as an optimizer and EfficientSU2 as a quantum ansatz. Despite the susceptibility to quantum noise, this research settles a new trajectory of utilizing quantum variational algorithms to predict and expand its applicability for MVA cases.

关键词： Malignant Ventricular Arrhythmia Sudden Cardiac Death Variational Quantum Algorithm Quantum Computing Neural Network

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Transfer Learning from Chest X-Ray Pre-trained Convolutional Neural Network for Learning Mammogram Data 3

Transfer Learning from Chest X-Ray Pre-trained Convolutional...

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

作者： Pardamean, Bens Cenggoro, Tjeng Wawan Rahutomo, Reza Budiarto, Arif Karuppiah, Ettikan Kandasamy Computer Science Department BINUS Graduate Program Master of Computer Science Program Bina Nusantara University Jakarta11480 Indonesia Computer Science Department School of Computer Science Bina Nusantara University Jakarta11480 Indonesia Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta11480 Indonesia NVIDIA Corporation United States

Breast cancer is one of the deadliest cancer for female nowadays. Despite of the rapid advancement in medical image analysis with the rise of deep learning, development of breast cancer detection system is limited due to relatively small size of the publicly available mammogram dataset. In this paper, we discover an effective configuration for transfer learning from Chest X-Ray pre-trained Convolutional Neural Network to overcome the small-size mammogram dataset problem. We found that the best configuration achieve 90.38% validation accuracy for modified. © 2018 The Authors. Published by Elsevier Ltd.

关键词： Deep learning

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Crowdsourcing annotation system of object counting dataset for deep learning algorithm 2

Crowdsourcing annotation system of object counting dataset f...

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2nd International Conference on Eco Engineering Development 2018, ICEED 2018

作者： Cenggoro, Tjeng Wawan Tanzil, Fidelson Aslamiah, Ayu Hidayah Karuppiah, Ettikan Kandasamy Pardamean, Bens Computer Science Department School of Computer Science Bina Nusantara University Jakarta11480 Indonesia Computer Science Department BINUS Graduate Program - Master of Computer Science Program Bina Nusantara University Jakarta11480 Indonesia NVIDIA Corporation Indonesia Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta11480 Indonesia

Deep Learning is currently the state-of-the-art technique for various Computer Vision tasks, including object counting. Despite of its high performance, Deep Learning requires a gigantic amount of training data to show its best result. Getting this massive data in reasonable time requires a proper strategy such as crowdsourcing. However, in case of object counting, we found no crowdsourcing system able to effectively collect necessary data. To tackle this problem, we develop a crowdsourcing system to annotate image for object counting dataset. This system is also equipped with validation system to ensure the quality of collected dataset. © 2018 Institute of Physics Publishing. All rights reserved.

关键词： Crowdsourcing

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Resolving p53 to Create Clinically-Relevant Mutation Models

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Microscopy and microanalysis : the official journal of Microscopy Society of America, Microbeam Analysis Society, Microscopical Society of Canada 2023年第1期29卷 1087-1090页

作者： Solares, Maria J. Jonaid, G.M. Kelly, Deborah F. Molecular Cellular Integrative Biosciences Graduate Program Huck Institutes of the Life Sciences Pennsylvania State University University Park PA United States Department of Biomedical Engineering Pennsylvania State University University Park PA United States Center for Structural Oncology Pennsylvania State University University Park PA United States Bioinformatics and Genomics Graduate Program Huck Institutes of the Life Sciences Pennsylvania State University University Park PA United States

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Data Mining and bioinformatics Approaches to Elucidate Bacterial Communities in the Extreme Environment

Data Mining and Bioinformatics Approaches to Elucidate Bacte...

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2023 International Conference on Informatics, Multimedia, Cyber and Information Systems, ICIMCIS 2023

作者： Trinugroho, Joko Pebrianto Hidayat, Alam Ahmad Nirwantono, Rudi Asadi, Faisal Pardamean, Bens Bina Nusantara University Bioinformatics and Data Science Research Center Jakarta11480 Indonesia Bina Nusantara University School of Computer Science Bioinformatics and Data Science Research Center Mathematics Department Jakarta11480 Indonesia Bina Nusantara University Faculty of Engineering Bioinformatics and Data Science Research Center Biotechnology Department Jakarta11480 Indonesia Bina Nusantara University School of Computer Science Bioinformatics and Data Science Research Center Computer Science Department Jakarta11480 Indonesia Bina Nusantara University Binus Graduate Program Computer Science Computer Science Department Jakarta11480 Indonesia

ISBN: (纸本)9798350307306

Bacteria are microscopic organisms that can be found in many environments. They are abundant and have many roles in our life. Studying bacteria is essential so that we can identify the bacteria that are needed for many industrial applications. However, the main problem is that majority of the bacteria are unculturable, hampering the exploration of bacteria from different environments. Metagenomics approach which employs Next Generation Sequencing technology could help study bacteria by utilizing 16S rRNA marker gene. This study aims to demonstrate data mining and bioinformatics approaches to analyze 16S rRNA sequencing data. The raw sequencing data of 16S rRNA was collected from biological database. Then, the data were trimmed, denoised, and clustered to generate Amplicon Sequence Variants (ASVs). Diversity (alpha and beta) and taxonomic analyses were then conducted to elucidate the bacterial diversity and taxonomic profile of ASVs. The results of this work showed that Shannon and PD indices in China's hot spring were higher than Singapore and the USA. Furthermore, a significant difference was observed in the PD index. The unweighted UniFrac distance also showed there was a significant difference of the bacterial communities between the three locations. In addition, the taxonomic investigation unveiled prevalent bacterial groups in the ecosystem, namely Proteobacteria, Chloroflexi, Cyanobacteria, and Crenarchaeota. The research outcomes have the potential to serve as a foundational resource for subsequent bacterial metagenomic research, particularly the hot spring environment. © 2023 IEEE.

关键词： Bacteria

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