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arXiv 2025年

作者： Park, Junseok Maury, Eduardo A. Oh, Changhoon Shin, Donghoon Denisko, Danielle Lee, Eunjung Alice Division of Genetics and Genomics Boston Children’s Hospital 3 Blackfan Circle BostonMA United States Department of Pediatrics Harvard Medical School 25 Shattuck St BostonMA United States Bioinformatics Integrative Genomics Program Harvard/MIT MD-PHD Program Harvard Medical School BostonMA United States Program in Medical and Population Genetics Broad Institute of MIT and Harvard CambridgeMA United States Graduate School of Information Yonsei University 50 Yonsei-ro Seodaemun-gu Seoul Korea Republic of Department of Human Centered Design and Engineering University of Washington SeattleWA United States Department of Biomedical Informatics Harvard Medical School BostonMA United States

Advances in genome sequencing technologies generate massive amounts of sequence data that are increasingly analyzed and shared through public repositories. On-demand infrastructure services on cloud computing platforms enable the processing of such large-scale genomic sequence data in distributed processing environments with a significant reduction in analysis time. However, parallel processing on cloud computing platforms presents many challenges to researchers, even skillful bioinformaticians. In particular, it is difficult to design a computing architecture optimized to reduce the cost of computing and disk storage as genomic data analysis pipelines often employ many heterogeneous tools with different resource requirements. To address these issues, we developed GenomeFlow, a tool for automated development of computing architecture and resource optimization on Google Cloud Platform, which allows users to process a large number of samples at minimal cost. We outline multiple use cases of GenomeFlow demonstrating its utility to significantly reduce computing time and cost associated with analyzing genomic and transcriptomic data from hundreds to tens of thousands of samples from several consortia. Here, we describe a step-by-step protocol on how to use GenomeFlow for a common genomic data processing task. We introduce this example protocol geared toward a bioinformatician with little experience in cloud computing. © 2025, CC BY.

关键词： Cloud platforms

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Implementing globally unique identifier architecture in date collection for a health management study in taiwan aboriginal tribe 1

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9th FTRA International Conference on Future Information Technology, FutureTech 2014

作者： Hung, Jui-Fu Rau, Hsiao-Hsien Hsu, Chien-Yeh Chen, Shih-Chang Tsai, Duu-Jian Fann, Yang Park, Joshua Eng, Joshua Graduate Institute of Biomedical Informatics Taipei Medical University Taipei Taiwan Graduate Institute of Patent National Taiwan University of Science and Technology Taipei Taiwan Intramural IT and Bioinformatics Program NINDS NIH HHS Bethesda United States

ISBN: (数字)9789401795586

ISBN: (纸本)9789401795579

In present, more and more attention has been put on the effort of protection of personal data and also new encryption technologies are derived. In this article, we introduce a personal information protection technology, global unique identifier (GUID), which is developed by National Institutes of Health U.S. and used for personal health information protection. The GUID is an identifier that allows researchers to associate and share data specific to a study participant without using or exposing personally identifiable information (PII). The GUID is made up of random alphanumeric characters and is not directly generated from PII/Protected Health Information (PHI). It has been approved by the NIH/USA office General Counsel for secure sharing of anonymized database. In our study, we used GUID as key identifier for health data collection from aboriginal tribe in a health promotion project. © Springer Science+Business Media Dordrecht 2015.

关键词： Cryptography

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Single-cell transcriptomics uncovers EGFR signaling-mediated gastric progenitor cell differentiation in stomach homeostasis (vol 14, 3750, 2023)

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NATURE COMMUNICATIONS 2023年第1期14卷 1-16页

作者： Takada, Hitomi Sasagawa, Yohei Yoshimura, Mika Tanaka, Kaori Iwayama, Yoshimi Hayashi, Tetsutaro Isomura-Matoba, Ayako Nikaido, Itoshi Kurisaki, Akira Laboratory of Stem Cell Technologies Graduate School of Science and Technology Nara Institute of Science and Technology Takayama-cho Ikoma Nara Japan Laboratory for Bioinformatics Research RIKEN Center for Biosystems Dynamics Research Wako Saitama Japan Department of Functional Genome Informatics Biological Data Science Medical Research Institute Tokyo Medical and Dental University Bunkyo Tokyo Japan Master’s/Doctoral Program in Life Science Innovation (Bioinformatics) Degree Programs in Systems and Information Engineering Graduate School of Science and Technology University of Tsukuba Tsukuba Ibaraki Japan

Defects in gastric progenitor cell differentiation are associated with various gastric disorders, including atrophic gastritis, intestinal metaplasia, and gastric cancer. However, the mechanisms underlying the multilineage differentiation of gastric progenitor cells during healthy homeostasis remain poorly understood. Here, using a single-cell RNA sequencing method, Quartz-Seq2, we analyzed the gene expression dynamics of progenitor cell differentiation toward pit cell, neck cell, and parietal cell lineages in healthy adult mouse corpus tissues. Enrichment analysis of pseudotime-dependent genes and a gastric organoid assay revealed that EGFR-ERK signaling promotes pit cell differentiation, whereas NF-κB signaling maintains gastric progenitor cells in an undifferentiated state. In addition, pharmacological inhibition of EGFR in vivo resulted in a decreased number of pit cells. Although activation of EGFR signaling in gastric progenitor cells has been suggested as one of the major inducers of gastric cancers, our findings unexpectedly identified that EGFR signaling exerts a differentiation-promoting function, not a mitogenic function, in normal gastric homeostasis.

关键词： Adult stem cells Stem-cell differentiation Stem-cell niche

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Using a Recurrent Neural Network Model for Classification of Tweets Conveyed Influenza-related Information 1

Using a Recurrent Neural Network Model for Classification of...

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1st International Workshop on Digital Disease Detection using Social Media, DDDSM 2017, co-located with the 8th International Joint Conference on Natural Language Processing, IJCNLP 2017

作者： Wang, Chen-Kai Singh, Onkar Tang, Zhao-Li Dai, Hong-Jie Graduate Institute of Biomedical Informatics Taipei Medical University Taipei Taiwan Bioinformatics Program Taiwan International Graduate Program Institute of Information Science Academia Sinica Taipei Taiwan Institute of Biomedical Informatics National Yang-Ming University Taipei Taiwan Department of Computer Science and Information Engineering National Taitung University Taitung Taiwan Interdisciplinary Program of Green and Information Technology National Taitung University Taitung Taiwan

ISBN: (纸本)9781948087070

Traditional disease surveillance systems depend on outpatient reporting and virological test results released by hospitals. These data have valid and accurate information about emerging outbreaks but it's often not timely. In recent years the exponential growth of users getting connected to social media provides immense knowledge about epidemics by sharing related information. Social media can now flag more immediate concerns related to outbreaks in real time. In this paper we apply the long short-term memory recurrent neural network (RNN) architecture to classify tweets conveyed influenza-related information and compare its performance with baseline algorithms including support vector machine (SVM), decision tree, naive Bayes, simple logistics, and naive Bayes multinomial. The developed RNN model achieved an F-score of 0.845 on the MedWeb task test set, which outperforms the F-score of SVM without applying the synthetic minority oversampling technique by 0.08. The F-score of the RNN model is within 1% of the highest score achieved by SVM with oversampling technique. © 2017 AFNLP

关键词： Support vector machines

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Association between response to brief trastuzumab exposure in cell lines and early stage HER2+ breast tumors 11

Association between response to brief trastuzumab exposure i...

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

作者： Sprecher, Emmett Sarkar, Sudipa Kleinstein, Steven H. Narayan, Murli Winer, Eric Tuck, David Lezon-Geyda, Kimberly Krop, Ian Harris, Lyndsay Department of Pathology Pathology Informatics United States Interdepartmental Program in Computational Biology and Bioinformatics United States Medical Oncology Yale Cancer Center United States School of Medicine Yale University New Haven CT United States Department of Medical Oncology Dana-Farber Cancer Institute Boston MA United States

ISBN: (纸本)9781450307963

Human epidermal growth factor receptor 2 amplified (HER2+) breast cancer is common and aggressive. Trastuzumab is a targeted therapy to the HER2 cell surface receptor and has greatly improved prognosis for HER2+ breast cancer patients, but trastuzumab-resistance is a significant problem. Few biomarkers of trastuzumab resistance of response have been found, and there has been tremendous difficulty identifying in vitro biomarkers that transfer to the in vivo HER2+ breast cancer setting. We identified gene expression signatures of trastuzumabresponse and trastuzumab-resistance in HER2+ breast cancer cell lines across 24-hour exposure to trastuzumab. A set of 180-genes changed significantly in a trastuzumab-sensitive HER2+ cell line (BT474) and 58 genes changed significantly across treatment in a trastuzumab-resistant HER2+ cell line (UACC812). To demonstrate that these signatures have clinical relevance, we applied them in vivo to gene expression profiles from early stage HER2+ breast tumors treated with a single dose of trastuzumab. We found that the BT474 trastuzumabresponsive signature was enriched among the changes in expression across treatment for responsive patients. The expression change for the BT474 signature genes was also able to partially cluster responsive and resistant breast tumors by outcome. A subset of the UACC812 trastuzumab-resistance signature was also enriched in the differential between responsive and resistant tumors prior to trastuzumab treatment. These results show for the first time that cell line-derived gene signatures can be useful in identifying whether breast cancer patients will ultimately benefit from trastuzumab treatment. This approach might one day be applied to enhance clinical treatment decisions. Copyright © 2011 ACM.

关键词： Gene expression

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Optimization by infusion of multiple reaction monitoring transitions for sensitive quantification of peptides by liquid chromatography/mass spectrometry

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Rapid Communications in Mass Spectrometry 2017年第9期31卷 753-761页

作者： Alghanem, Bandar Nikitin, Frédéric Stricker, Thomas Duchoslav, Eva Luban, Jeremy Strambio-De-Castillia, Caterina Muller, Markus Lisacek, Frédérique Varesio, Emmanuel Hopfgartner, Gérard Life Sciences Mass Spectrometry Department of Inorganic and Analytical Chemistry University of Geneva Geneva Switzerland King Abdullah International Medical Research Center Riyadh Saudi Arabia Proteome Informatics Group Swiss Institute of Bioinformatics Geneva Switzerland SCIEX ConcordON Canada Medical School Program in Molecular Medicine University of Massachusetts WorcesterMA United States School of Pharmaceutical Sciences University of Lausanne University of Geneva Geneva Switzerland Computer Science Department University of Geneva Geneva Switzerland

Rationale: In peptide quantification by liquid chromatography/mass spectrometry (LC/MS), the optimization of multiple reaction monitoring (MRM) parameters is essential for sensitive detection. We have compared different approaches to build MRM assays, based either on flow injection analysis (FIA) of isotopically labelled peptides, or on the knowledge and the prediction of the best settings for MRM transitions and collision energies (CE). In this context, we introduce MRMOptimizer, an open-source software tool that processes spectra and assists the user in selecting transitions in the FIA workflow. Methods: MS/MS spectral libraries with CE voltages from 10 to 70 V are automatically acquired in FIA mode for isotopically labelled peptides. Then MRMOptimizer determines the optimal MRM settings for each peptide. To assess the quantitative performance of our approach, 155 peptides, representing 84 proteins, were analysed by LC/MRM-MS and the peak areas were compared between: (A) the MRMOptimizer-based workflow, (B1) the SRMAtlas transitions set used ‘as-is’;(B2) the same SRMAtlas set with CE parameters optimized by Skyline. Results: 51% of the three most intense transitions per peptide were shown to be common to both A and B1/B2 methods, and displayed similar sensitivity and peak area distributions. The peak areas obtained with MRMOptimizer for transitions sharing either the precursor ion charge state or the fragment ions with the SRMAtlas set at unique transitions were increased 1.8- to 2.3-fold. The gain in sensitivity using MRMOptimizer for transitions with different precursor ion charge state and fragment ions (8% of the total), reaches a ~ 11-fold increase. Conclusions: Isotopically labelled peptides can be used to optimize MRM transitions more efficiently in FIA than by searching databases. The MRMOptimizer software is MS independent and enables the post-acquisition selection of MRM parameters. Coefficients of variation for optimal CE values are lower than those obt

关键词： Peptides

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Chemical-Induced Disease Detection Using Invariance-based Pattern Learning Model 1

Chemical-Induced Disease Detection Using Invariance-based Pa...

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1st International Workshop on Digital Disease Detection using Social Media, DDDSM 2017, co-located with the 8th International Joint Conference on Natural Language Processing, IJCNLP 2017

作者： Warikoo, Neha Chang, Yung-Chun Hsu, Wen-Lian Institute of Biomedical Informatics National Yang-Ming University Taipei112 Taiwan Bioinformatics Program Taiwan International Graduate Program Institute of Information Science Academia Sinica Taipei115 Taiwan Institute of Information Science Academia Sinica Taipei115 Taiwan Graduate Institute of Data Science Taipei Medical University Taipei106 Taiwan

ISBN: (纸本)9781948087070

In this work, we introduce a novel feature engineering approach named "algebraic invariance" to identify discriminative patterns for learning relation pair features for the chemical-disease relation (CDR) task of BioCreative V. Our method exploits the existing structural similarity of the key concepts of relation descriptions from the CDR corpus to generate robust linguistic patterns for SVM tree kernel-based learning. Preprocessing of the training data classifies the entity pairs as either related or unrelated to build instance types for both inter-sentential and intra-sentential scenarios. An invariant function is proposed to process and optimally cluster similar patterns for both positive and negative instances. The learning model for CDR pairs is based on the SVM tree kernel approach, which generates feature trees and vectors and is modeled on suitable invariance based patterns, bringing brevity, precision and context to the identifier features. Results demonstrate that our method outperformed compared approaches, achieved a high recall rate of 85.08%, and averaged an F1-score of 54.34% without the use of any additional knowledge bases. © 2017 AFNLP

关键词： Forestry

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An integrative approach revealing the landscape of long noncoding RNAs in human brain

An integrative approach revealing the landscape of long nonc...

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2016 International Conference on Computational Science and Computational Intelligence, CSCI 2016

作者： Li, Dan Yang, William Arthur, Carolyn Yoshigoe, Kenji Liu, Jun Tong, Weida Yang, Mary MidSouth Bioinformatics Center and Joint Bioinformatics Ph.D. Program University of Arkansas at Little Rock University of Arkansas for Medical Sciences 2801 S. University Avenue Little RockAR72204 United States Harvard T. H. Chan School of Public Health Harvard University One Oxford Street CambridgeMA02138 United States United States Food and Drug Adminstration National Center for Toxicological Research 3900 NCTR Road JeffersonAR72079 United States Department of Informatics Science MidSouth Bioinformatics Center and Joint Bioinformatics Ph.D. Program University of Arkansas at Little Rock University of Arkansas for Medical Sciences 2801 S. Univ. Avenue Little RockAR72204 United States

ISBN: (纸本)9781509055104

Long noncoding RNAs (lncRNAs) function as regulators and play critical roles in diverse biological processes, however, the majority of lncRNAs are not characterized, and their roles in regulation remain to be elucidated. Present RNA-seq assembly approaches are insufficient to identify complete full-length transcripts and often reveal excessive amount of single-exon lncRNAs, many of them tend to be the fragments of transcripts. Here we developed an integrated approach that combined the results from reference-guided and de novo assembly to systematically identify lncRNAs. Experiments on simulated data and real RNA-seq data showed that our method effectively yielded a more comprehensive set of lncRNAs. We applied the method on 299 human brain RNA-seq samples with a total of 4.5 billion raw reads. The results yield a comprehensive lncRNAs mapping in human brain, allowing discovery of novel lncRNAs and further function annotation. © 2016 IEEE.

关键词： RNA

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Evolution strategy applied to global optimization of clusters in gene expression data of DNA microarrays

Evolution strategy applied to global optimization of cluster...

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Congress on Evolutionary Computation

作者： Kwonmoo Lee Ju Han Kim Tae Su Chung Byoung-Sun Moon Hoseung Lee I.S. Kohane Bioinformatics Laboratory Information Technology R and D Center Seoul South Korea Childrens Hospital Informatics Program Harvard Medical School Children''s Hospital Boston MA USA

ISBN: (纸本)0780366573

Cluster analysis is the most important method for analyzing large-scale gene expression patterns. The matrix representation of microarray data and its successive 'optimal' incisional hyperplanes that create top-down hierarchical tree are a useful platform for developing optimization algorithms to determine the 'optimal' clusters from a pairwise proximity matrix which represents completely connected and weighted graph. Evolution strategy is applied to determine the 'globally optimal' incisional hyperplanes to construct hierarchical tree structure and tested with Fisher's iris and Golub's leukemia data sets. The results were compared with those of bottom-up hierarchical clustering, K-means and SOMs (Self-Organizing Maps) algorithms with promising results.

关键词： Gene expression DNA Genomics bioinformatics Sequences Information analysis Large-scale systems Humans Cancer Hospitals

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Special issue on genome wide association study

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Quantitative Biology 2021年第2期9卷 105-106页

作者： Lin Hou Qiongshi Lu Can Yang Hongyu Zhao Center for Statistical Science Department of Industrial EngineeringMOE Key Laboratory of BioinformaticsSchool of Life SciencesTsinghua UniversityBeijing 100084China Department of Biostatistics and Medical Informatics Department of StatisticsCenter for Demography of Health and AgingUniversity of Wisconsin-MadisonWl 53726USA Department of Mathematics the Hong Kong University of Science and TechnologyHong KongChina Department of Biostatistics Yale School of Public HealthNew HavenCT 06510USA Department of Genetics Yale UniversityNew HavenCT 06510USA Program of Computational Biology and Bioinformatics Yale UniversityNew HavenCT 06510USA

Since the first success of genome wide association study(GWAS)was reported in 2005 by Hoh and colleagues on the identification of a major gene for age related macular degeneration,many thousands of published studies have reported reproducible association signals between hundreds of thousands of genetic variants and thousands of traits and diseases in the past 16 *** is a growing number of biobanks with up to one million participants developed across the world to facilitate genetic studies of complex traits through ***,many consortium projects have been initiated to collect diverse types of data that have proved very valuable for integrated analysis of GWAS *** rich data present both great opportunities and challenges to scientists on data management,computation,analysis,integration,and *** special issue of Quantitative Biology collects nine papers that cover major progresses,challenges,and future directions for GWAS analysis.

关键词： hundreds GWAS initiated

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