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arXiv 2025年

作者： Costa-Silva, Juliana Menotti, David Lopes, Fabricio M. Department of Informatics Federal University of Paraná Rua Coronel Francisco Heráclito dos Santos 100 Paraná81531-990 Brazil Department of Computer Science Bioinformatics Graduate Program Federal University of Technology - Paraná Av. Alberto Carazzai 1640 - Cornélio Procópio ParanáPostal code: 86300-000 Brazil

Motivation: Bulk RNA-Seq is a widely used method for studying gene expression across a variety of contexts. The significance of RNA-Seq studies has grown with the advent of high-throughput sequencing technologies. Computational methods have been developed for each stage of the identification of differentially expressed genes. Nevertheless, there are few studies exploring the association between different types of methods. In this study, we evaluated the impact of the association of methodologies in the results of differential expression analysis. By adopting two data sets with qPCR data (to gold-standard reference), seven methods were implemented and assessed in R packages (EBSeq, edgeR, DESeq2, limma, SAMseq, NOISeq, and Knowseq), which was performed and assessed separately and in association. The results were evaluated considering the adopted qPCR data. Results: Here, we introduce consexpressionR, an R package that automates differential expression analysis using consensus of at least seven methodologies, producing more assertive results with a significant reduction in false positives. Availability: consexpressionR is an R package available via Source code and support are available at GitHub (https://***/costasilvati/consexpressionR). © 2025, CC BY-NC-ND.

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The gene dose makes the disease

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四川生理科学杂志 2022年第8期44卷 1430-1430页

作者： Corrine Smolen Department of Biochemistry and Molecular Biology Pennsylvania State University University Park PA 16802 USA Bioinformatics and Genomics Graduate Program The Huck Institutes of the Life Sciences University Park PA 16802 USA

A long-standing challenge in genomics has been to identify causal genes within rare copy-number variant regions that are intolerant to altered *** this issue,Collins et *** a meta-analysis of almost a million individu... 详细信息

关键词： dosage al. rare

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Enhancing Label Consistency on Document-level Named Entity Recognition

arXiv

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arXiv 2022年

作者： Jeong, Minbyul Kang, Jaewoo Department of Computer Science and Engineering Korea University Seoul02841 Korea Republic of Interdisciplinary Graduate Program in Bioinformatics Korea University Seoul Korea Republic of AIGEN Sciences Seoul04778 Korea Republic of

Summary: Named entity recognition (NER) is a fundamental part of extracting information from documents in biomedical applications. A notable advantage of NER is its consistency in extracting biomedical entities in a document context. Although existing document NER models show consistent predictions, they still do not meet our expectations. We investigated whether the adjectives and prepositions within an entity cause a low label consistency, which results in inconsistent predictions. In this paper, we present our method, ConNER, which enhances the label dependency of modifiers (e.g., adjectives and prepositions) to achieve higher label agreement. ConNER refines the draft labels of the modifiers to improve the output representations of biomedical entities. The effectiveness of our method is demonstrated on four popular biomedical NER datasets;in particular, its efficacy is proved on two datasets with 7.5–8.6% absolute improvements in the F1 score. We interpret that our ConNER method is effective on datasets that have intrinsically low label consistency. In the qualitative analysis, we demonstrate how our approach makes the NER model generate consistent predictions. © 2022, CC BY-SA.

关键词： Forecasting

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Lightweight Pedestrian Detection through Guided Filtering and Deep Learning 10

Lightweight Pedestrian Detection through Guided Filtering an...

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10th IEEE Global Conference on Consumer Electronics, GCCE 2021

作者： Muchtar, Kahlil Saddami, Khairun Bintang, Akhyar Cenggoro, Tjeng Wawan Pardamean, Bens Lin, Chih-Yang Ernita, Tia Universitas Syiah Kuala Department of Electrical And Computer Engineering Aceh Indonesia Universitas Syiah Kuala Department of Electrical And Computer Engineering Aceh Indonesia Bina Nusantara University School of Computer Science Bina Nusantara University Bioinformatics And Data Science Research Center Computer Science Department Jakarta Indonesia Bina Nusantara University BINUS Graduate Program-Master of Computer Science Program Bina Nusantara University Bioinformatics And Data Science Research Center Computer Science Department Jakarta Indonesia Yuan-Ze University Department of Electrical And Engineering Taoyuan Taiwan

ISBN: (纸本)9781665436762

In this paper, we propose a novel approach to locate and detect moving pedestrians in a video. Our proposed method first locates the region of interest (ROI) using a background subtraction algorithm based on guided filtering. This novel background subtraction algorithm allows our method to also filter unexpected noises at the same time, which could benefit the performance of our proposed method. Subsequently, the pedestrians are detected using YOLOv3 within the provided ROI. Our experiments showed that the proposed method has a competitive performance in the CDNET2014 dataset with a fast-processing time. © 2021 IEEE.

关键词： Convolutional neural networks

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Bayesian Formulations for Graph Spectral Denoising

arXiv

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arXiv 2023年

作者： Leone, Sam Sun, Xingzhi Perlmutter, Michael Krishnaswamy, Smita Program for Applied Mathematics Yale University United States Department of Computer Science Yale University United States Department of Mathematics Boise State University United States Department of Genetics Yale School of Medicine United States Wu Tsai Institute Yale University United States FAIR Meta AI United States Computational Biology and Bioinformatics Program Yale University United States

Here we consider the problem of denoising features associated to complex data, modeled as signals on a graph, via a smoothness prior. This is motivated in part by settings such as single-cell RNA where the data is very high-dimensional, but its structure can be captured via an affinity graph. This allows us to utilize ideas from graph signal processing. In particular, we present algorithms for the cases where the signal is perturbed by Gaussian noise, dropout, and uniformly distributed noise. The signals are assumed to follow a prior distribution defined in the frequency domain which favors signals which are smooth across the edges of the graph. By pairing this prior distribution with our three models of noise generation, we propose Maximum A Posteriori (M.A.P.) estimates of the true signal in the presence of noisy data and provide algorithms for computing the M.A.P. Finally, we demonstrate the algorithms' ability to effectively restore signals from white noise on image data and from severe dropout in single-cell RNA sequence data. © 2023, CC BY.

关键词： Frequency domain analysis

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Identify Non-mutational p53 Functional Deficiency in Human Cancers

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Genomics, Proteomics & bioinformatics 2024年第5期22卷 85-98页

作者： Qianpeng Li Yang Zhang Sicheng Luo Zhang Zhang Ann L.Oberg David E.Kozono Hua Lu Jann N.Sarkaria Lina Ma Liguo Wang National Genomics Data Center China National Center for BioinformationBeijing 100101China Beijing Institute of Genomics Chinese Academy of SciencesBeijing 100101China University of Chinese Academy of Sciences Beijing 100049China Division of Computational Biology Mayo Clinic College of Medicine and ScienceRochesterMN 55905USA Department of Radiation Oncology Dana-Farber Cancer Institute and Brigham and Women's HospitalBostonMA 02215USA Department of Biochemistry&Molecular Biology and Tulane Cancer Center Tulane University School of MedicineNew OrleansLA 70112USA Department of Radiation Oncology Mayo Clinic College of Medicine and ScienceRochesterMN 55905USA Department of Biochemistry and Molecular Biology Mayo Clinic College of Medicine and ScienceRochesterMN 55905USA Bioinformatics and Computational Biology Graduate Program University of Minnesota RochesterRochesterMN 55904USA

An accurate assessment of p53's functional statuses is critical for cancer genomic ***,there is a significant challenge in identifying tumors with non-mutational p53 inactivation which is not detectable through DNA *** undetected cases are often misclassified as p53-normal,leading to inaccurate prognosis and downstream association *** address this issue,we built the support vector machine(SVM)models to systematically reassess p53's functional statuses in TP53 wild-type(TP53^(WT))tumors from multiple The Cancer Genome Atlas(TCGA)***-validation demonstrated the good performance of the SVM models with a mean area under the receiver operating characteristic curve(AUROC)of 0.9822,precision of 0.9747,and recall of *** study revealed that a significant proportion(87%-99%)of TP53^(WT) tumors actually had compromised p53 *** analyses uncovered that these genetically intact but functionally impaired(termed as predictively reduced function of p53 or TP53^(WT)-pRF)tumors exhibited genomic and pathophysiologic features akin to TP53-mutant tumors:heightened genomic instability and elevated levels of ***,patients with TP53^(WT)-pRF tumors experienced significantly shortened overall survival or progression-free survival compared to those with predictively normal function of p53(TP53^(WT)-pN)tumors,and these patients also displayed increased sensitivity to platinum-based chemotherapy and radiation therapy.

关键词： Cancer Composite expression DNA mutation Machine learning p53 deficiency

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Hyperbolic procrustes analysis using riemannian geometry 21

Hyperbolic procrustes analysis using riemannian geometry

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Proceedings of the 35th International Conference on Neural Information Processing Systems

作者： Ya-Wei Eileen Lin Yuval Kluger Ronen Talmon Viterbi Faculty of Electrical and Computer Engineering Technion Program in Applied Mathematics Yale University and Interdepartmental Program in Computational Biology and Bioinformatics Yale University and Department of Pathology Yale University

ISBN: (纸本)9781713845393

Label-free alignment between datasets collected at different times, locations, or by different instruments is a fundamental scientific task. Hyperbolic spaces have recently provided a fruitful foundation for the development of informative representations of hierarchical data. Here, we take a purely geometric approach for label-free alignment of hierarchical datasets and introduce hyperbolic Procrustes analysis (HPA). HPA consists of new implementations of the three prototypical Procrustes analysis components: translation, scaling, and rotation, based on the Riemannian geometry of the Lorentz model of hyperbolic space. We analyze the proposed components, highlighting their useful properties for alignment. The efficacy of HPA, its theoretical properties, stability and computational efficiency are demonstrated in simulations. In addition, we showcase its performance on three batch correction tasks involving gene expression and mass cytometry data. Specifically, we demonstrate high-quality unsupervised batch effect removal from data acquired at different sites and with different technologies that outperforms recent methods for label-free alignment in hyperbolic spaces.

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Scalable On-Chain Storage and Querying for Biomedical Certificates: A Blockchain Solution for Large Data Handling

SSRN

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SSRN 2024年

作者： Ni, Eric Knight, Elizabeth Gerstein, Mark Program in Computational Biology and Bioinformatics Yale University 100 College Street New HavenCT06511 United States Department of Molecular Biophysics & Biochemistry Yale University 266 Whitney Avenue New HavenCT06511 United States Yale School of Medicine 333 Cedar Street New HavenCT06510 United States

Blockchain technology is gaining increased traction in the biomedical sector due to its ability to improve trust and reduce the risk of fraud and errors in the handling of health data. However, the large volume of biomedical datasets has slowed its adoption due to poor scalability. This challenge is especially relevant for applications that rely on blockchain’s strong immutability by storing data directly on-chain. Here, we demonstrate the potential of blockchain to create a secure and trustless environment for managing large on-chain records. Specifically, we detail an efficient, index-based approach for storing data on the Ethereum blockchain. We show that insertion and retrieval speeds remain nearly constant relative to database size, scaling linearly with the amount of data processed. Additionally, we achieve substantial efficiency gains through low-level assembly optimizations on the Ethereum Virtual Machine, underscoring the limitations of the Solidity compiler. Finally, we illustrate this approach through a practical case study, designing a smart contract for storing and querying training certificates on the Ethereum blockchain. Our solution achieves ~2x faster data insertion, ~500x faster retrieval, ~60% lower gas costs, and 50% lower storage usage compared to baseline methods. It won first place for track 1 of the 2022 iDASH secure genome analysis competition. We also demonstrate that this solution readily adapts to other data types, enabling efficient on-chain storage and retrieval of text, RNA-seq, or biomedical image data. © 2024, The Authors. All rights reserved.

关键词： Chains

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CD19 CAR-T With Axicabtagene Ciloleucel in R/R Large B-Cell Lymphoma With/Without Prior Autologous Stem Cell Transplant

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Clinical Lymphoma, Myeloma and Leukemia 2025年第6期25卷 432-439页

作者： Chen, David T. Goloubeva, Olga Rapoport, Aaron P. Dahiya, Saurabh Atanackovic, Djordje Hardy, Nancy Kocoglu, Mehmet Lutfi, Forat Alkhaldi, Hanan Claiborne, John Preston Lee, Seung Tae Kline, Kathryn Law, Jennie Y. Yared, Jean A. Division of Hematology/Oncology Department of Medicine Greenebaum Comprehensive Cancer Center University of Maryland Medical Center University of Maryland School of Medicine Baltimore MD United States Department of Epidemiology and Public Health Division of Biostatistics and Bioinformatics University of Maryland Marlene and Stewart Greenebaum Comprehensive Cancer Center University of Maryland School of Medicine Baltimore MD United States Transplantation & Cellular Therapy Program Division of Hematology/Oncology Department of Internal Medicine Greenebaum Comprehensive Cancer Center University of Maryland Medical Center University of Maryland School of Medicine Baltimore MD United States Sidney Kimmel Comprehensive Cancer Center Johns Hopkins University School of Medicine Baltimore MD United States

Background: Anti-CD19 CAR-T therapy has been a breakthrough in treatment of primary refractory or relapsed large B-cell lymphoma (r/r LBCL) and is poised to supplant previous second line of high dose chemotherapy and autologous stem cell transplantation (HDT/ASCT). However, in clinical practice, high risk patients with chemoimmunotherapy sensitive disease continue to receive salvage chemoimmunotherapy or cannot access CAR-T in a timely manner and thus may still proceed to HDT/ASCT. Little is known about clinical outcomes of CAR-T in patients who receive HDT/ASCT compared to those who are transplant-naïve. Design: We conducted a retrospective study of patients with r/r LBCL who previously underwent HDT/ASCT or were transplant-naïve (n = 97) and received axicabtagene ciloleucel after at least 2 prior therapy lines between 1/1/2018 to 12/31/2021. Primary endpoint was progression-free survival (PFS). Secondary endpoints were overall survival (OS), nonrelapse mortality (NRM), and cumulative incidence of relapse/progression. Results: 82 (84.5%) patients were transplant-naïve and 15 (15.5%) previously received HDT/ASCT. No differences were found in the incidence of high-grade cytokine release syndrome or immune effector cell-associated neurotoxicity syndrome, length of hospital admission, or incidence of cytopenia at day 30. 90-day response, PFS, OS, cumulative incidence of relapse/progression, and NRM were not different. Factors that adversely affected outcomes were prior bridging therapy, elevated LDH or thrombocytopenia at time of lymphodepleting chemotherapy, and worse ECOG performance status. Conclusion: Prior treatment with HDT/ASCT does not compromise the safety and efficacy of anti-CD19 CAR-T therapy, suggesting a continued role for HDT/ASCT in treatment of select patients with r/r DLBCL. © 2024

关键词： Autologous HCT Axi-cel CAR-T DLBCL HSCT

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LLM2Vec Sentence Embeddings Analysis in Sentiment Classification

LLM2Vec Sentence Embeddings Analysis in Sentiment Classifica...

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International Conference on Data and Software Engineering (ICODSE)

作者： Matthew Martianus Henry Nur Adhianti Hervanto Mahmud Isnan Dian Kurnianingrum Chyntia Ika Ratnapuri Bens Pardamean Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta Indonesia Computer Science Department School of Computer Science Bina Nusantara University Jakarta Indonesia Entrepreneurship Department Bina Nusantara University Jakarta Indonesia Computer Science Department BINUS Graduate Program-Master of Computer Science Bina Nusantara University Jakarta Indonesia

ISBN: (数字)9798331506407

ISBN: (纸本)9798331506414

Sentiment analysis is crucial method in business intelligence to extract insights, which typically begin with sentiment classification. One of the latest frameworks for generating sentence embeddings for sentiment classification is LLM2Vec, which allows Transformer decoder-based models to generate sentence embeddings for text representation. Its capability is deemed language-agnostic, which, in this study, the framework is leveraged for Tokopedia tweet sentiment analysis to prove the claim. The base decoder models used in the LLM2Vec framework were Llama 3 8B, Llama 2 7B, Sheared Llama 1.3B, and Mistral 7B. Two BERT-based models, which are the Indonesian SBERT model and IndoBERT trained with the SimCSE approach, were employed as a comparison. The generated embeddings were classified using logistic regression, SVM, and MLP Classifier. Classifiers using embedding generated by LLM2Vec with Llama 3 8B and Mistral 7B achieves on-par performance with classifiers that utilize IndoBERT SimCSE embeddings, while classifiers using embeddings generated by LLM2Vec with Llama 2 7B and Sheared Llama 1.3B achieves much lower performance. Classifiers with Indonesian SBERT embeddings achieve the highest F1 score performance. Despite slightly lower performance, this study has proven the language-agnostic capability of LLM2Vec, especially with Llama 3 8B and Mistral 7B in colloquial Bahasa Indonesia sentiment analysis, since none of the base decoders were ever trained using the Bahasa Indonesia corpus.

关键词： Support vector machines Sentiment analysis Logistic regression Social networking (online) Blogs Transformers Encoding Decoding Business intelligence Software engineering

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