Bibliografías temáticas / Classification ACMG

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Literatura académica sobre el tema "Classification ACMG"

Autor: Grafiati
Publicado: 21 de diciembre de 2024
Última modificación: 31 de julio de 2025

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Artículos de revistas sobre el tema "Classification ACMG"

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Lugeiro, Palloma C., Betsaida Urtremari, Lucas S. Santana, Elisangela P. S. Quedas, and Delmar Muniz Lourenco. "Comparative Analysis of Different International Criteria (ACMG-AMP vs. TENGEN) Applied to Classification of Missense Germline Allelic Variants in Patients With Multiple Endocrine Neoplasia Type 1 or Suspected to this Syndrome." Journal of the Endocrine Society 5, Supplement_1 (2021): A1014. http://dx.doi.org/10.1210/jendso/bvab048.2074.

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Abstract Context: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant genetic syndrome caused by germline pathogenic allele variants (PAV) in the MEN1 tumor suppressor gene, which predispose MEN1 carriers to the increased risk of several endocrine neoplasms throughout life. The MEN1 gene (11q13), contains 10 exons encoding the MENIN protein. About 600 different PAVs have been reported, with 25% of them being missense variants. Of value, the definition of pathogenicity can be challenging, especially for missense variants. Thus, international guidelines for improving the clas
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Cristofoli, Francesca, Muharrem Daja, Paolo Enrico Maltese, et al. "MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations." Genes 14, no. 8 (2023): 1600. http://dx.doi.org/10.3390/genes14081600.

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We have developed MAGI-ACMG, a classification algorithm that allows the classification of sequencing variants (single nucleotide or small indels) according to the recommendations of the American College of Medical Genetics (ACMG) and the Association for Clinical Genomic Science (ACGS). The MAGI-ACMG classification algorithm uses information retrieved through the VarSome Application Programming Interface (API), integrates the AutoPVS1 tool in order to evaluate more precisely the attribution of the PVS1 criterion, and performs the customized assignment of specific criteria. In addition, we propo
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Mattivi, Connor L., J. Martijn Bos, Richard D. Bagnall, et al. "Clinical Utility of a Phenotype-Enhanced MYH7 -Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing." Circulation: Genomic and Precision Medicine 13, no. 5 (2020): 453–59. http://dx.doi.org/10.1161/circgen.120.003039.

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Background: Missense variants in the MYH7 -encoded MYH7 (beta myosin heavy chain 7) represent a leading cause of hypertrophic cardiomyopathy (HCM). MYH7 -specific American College of Medical Genetics and Genomics (ACMG) variant classification guidelines were released recently but have yet to be assessed independently. We set out to assess the performance of the MYH7 -specific ACMG guidelines and determine if the addition of phenotype-enhanced criteria (PE-ACMG) using the HCM Genotype Predictor Score can further reduce the burden of variants of uncertain significance (VUS). Methods: Re-assessme
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Cheng, Liting, Xiaoyan Li, Lin Zhao, et al. "Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework." International Journal of Genomics 2020 (February 26, 2020): 1–12. http://dx.doi.org/10.1155/2020/2415850.

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Purpose. Next-generation sequencing (NGS) has become more accessible, leading to an increasing number of genetic studies of familial bradycardia being reported. However, most of the variants lack full evaluation. The relationship between genetic factors and bradycardia should be summarized and reevaluated. Methods. We summarized genetic studies published in the PubMed database from 2008/1/1 to 2019/9/1 and used the ACMG/AMP classification framework to analyze related sequence variants. Results. We identified 88 articles, 99 sequence variants, and 34 genes after searching the PubMed database an
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Brown, Angela, Mansour Zamanpoor, Donald R. Love, and Debra O. Prosser. "Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines." Sultan Qaboos University Medical Journal [SQUMJ] 19, no. 4 (2019): 324. http://dx.doi.org/10.18295/squmj.2019.19.04.008.

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Objectives: Molecular diagnostic laboratories screen for mutations in disease-causing genes in order to confirm a clinical diagnosis. The classification of DNA variants as ‘pathogenic’ or ‘likely pathogenic’ mutations creates a workflow bottleneck, which becomes increasingly challenging as greater number of genes are screened. The classification challenge is also acute if there are conflicting reports regarding pathogenicity and differing classification criteria between laboratories. This study aimed to compare two procedures for the classification of variants in the breast cancer (BRCA)1 gene
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Cristofoli, Francesca, Elisa Sorrentino, Giulia Guerri, et al. "Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting." Genes 12, no. 12 (2021): 1885. http://dx.doi.org/10.3390/genes12121885.

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Variant interpretation is challenging as it involves combining different levels of evidence in order to evaluate the role of a specific variant in the context of a patient’s disease. Many in-depth refinements followed the original 2015 American College of Medical Genetics (ACMG) guidelines to overcome subjective interpretation of criteria and classification inconsistencies. Here, we developed an ACMG-based classifier that retrieves information for variant interpretation from the VarSome Stable-API environment and allows molecular geneticists involved in clinical reporting to introduce the nece
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Liu, Yichuan, Hui-Qi Qu, Adam S. Wenocur, et al. "Interpretation of Maturity-Onset Diabetes of the Young Genetic Variants Based on American College of Medical Genetics and Genomics Criteria: Machine-Learning Model Development." JMIR Biomedical Engineering 5, no. 1 (2020): e20506. http://dx.doi.org/10.2196/20506.

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Background Maturity-onset diabetes of the young (MODY) is a group of dominantly inherited monogenic diabetes, with HNF4A-MODY, GCK-MODY, and HNF1A-MODY as the three most common forms based on the causal genes. Molecular diagnosis of MODY is important for precise treatment. Although a DNA variant causing MODY can be assessed based on the criteria of the American College of Medical Genetics and Genomics (ACMG) guidelines, gene-specific assessment of disease-causing mutations is important to differentiate among MODY subtypes. As the ACMG criteria were not originally designed for machine-learning
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Tavtigian, Sean V., Marc S. Greenblatt, Steven M. Harrison, et al. "Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework." Genetics in Medicine 20, no. 9 (2018): 1054–60. http://dx.doi.org/10.1038/gim.2017.210.

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DeMille, Desiree, Jamie McDonald, Carmelo Bernabeu, et al. "Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1." Human Mutation 2024 (May 18, 2024): 1–13. http://dx.doi.org/10.1155/2024/3043736.

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The 2015 ACMG/AMP standards and guidelines for interpretation of sequence variants are widely used by laboratories, including for variant curation of the hereditary hemorrhagic telangiectasia (HHT) genes. However, the need for gene- and disease-specific modifications and specifications of these general guidelines to optimize and standardize variant classification was recognized at the time of publication. With this goal, the ClinGen HHT variant curation expert panel was formed. Here, we describe our recommended HHT-specific variant classification criteria and the outcomes from pilot testing of
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Lattante, Serena, Giuseppe Marangi, Paolo Niccolò Doronzio, et al. "High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines." Genes 11, no. 10 (2020): 1123. http://dx.doi.org/10.3390/genes11101123.

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The development of high-throughput sequencing technologies and screening of big patient cohorts with familial and sporadic amyotrophic lateral sclerosis (ALS) led to the identification of a significant number of genetic variants, which are sometimes difficult to interpret. The American College of Medical Genetics and Genomics (ACMG) provided guidelines to help molecular geneticists and pathologists to interpret variants found in laboratory testing. We assessed the application of the ACMG criteria to ALS-related variants, combining data from literature with our experience. We analyzed a cohort
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Tesis sobre el tema "Classification ACMG"

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Alameh, Malak. "Phénotypage à haut débit des variants du canal potassique cardiaque hERG." Electronic Thesis or Diss., Nantes Université, 2024. http://www.theses.fr/2024NANU1023.

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Le syndrome du QT long de type 2 (SQTL2) héréditaire est un trouble du rythme cardiaque, causé par des mutations perte de fonction dans le gène KCNH2, codant pour le canal ionique cardiaque hERG. Aujourd’hui, plus de 3 000 variants du gène KCNH2 sont répertoriés dans la base de données internationale ClinVar, mais la majorité sont classés comme des variants de signification incertaine (Variant of Unknown Significance en anglais VUS), car leur pathogénicité potentielle n’est pas encore déterminée. La reclassification de ces VUS est primordiale pour améliorer le suivi des personnes affectées. Ce
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Shire, Norah J. "Boosting, Bagging, and Classification Analysis to Improve Noninvasive Liver Fibrosis Prediction in HCV/HIV Coinfected Subjects: An Analysis of the AIDS Clinical Trials Group (ACTG) 5178." Cincinnati, Ohio : University of Cincinnati, 2007. http://rave.ohiolink.edu/etdc/view.cgi?acc_num=ucin1172860066.

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Thesis (Ph.D.)--University of Cincinnati, 2007.<br>Advisor: Charles Ralph Buncher. Title from electronic thesis title page (viewed April 23, 2009). Keywords: Coinfection; Boosting and bagging; Classification analysis; HIV; Viral hepatitis. Includes abstract. Includes bibliographical references.
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Chen, Yinlin. "A High-quality Digital Library Supporting Computing Education: The Ensemble Approach." Diss., Virginia Tech, 2017. http://hdl.handle.net/10919/78750.

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Educational Digital Libraries (DLs) are complex information systems which are designed to support individuals' information needs and information seeking behavior. To have a broad impact on the communities in education and to serve for a long period, DLs need to structure and organize the resources in a way that facilitates the dissemination and the reuse of resources. Such a digital library should meet defined quality dimensions in the 5S (Societies, Scenarios, Spaces, Structures, Streams) framework - including completeness, consistency, efficiency, extensibility, and reliability - to ensure t
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Herrmann, Kai, Hannes Voigt, and Wolfgang Lehner. "Online horizontal partitioning of heterogeneous data." De Gruyter, 2014. https://tud.qucosa.de/id/qucosa%3A72923.

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In an increasing number of use cases, databases face the challenge of managing heterogeneous data. Heterogeneous data is characterized by a quickly evolving variety of entities without a common set of attributes. These entities do not show enough regularity to be captured in a traditional database schema. A common solution is to centralize the diverse entities in a universal table. Usually, this leads to a very sparse table. Although today’s techniques allow efficient storage of sparse universal tables, query efficiency is still a problem. Queries that address only a subset of attributes have
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"An automatic classification of document (ACM) for knowledge management." 2001. http://library.cuhk.edu.hk/record=b6073347.

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Wong Wai-Ting Jacqueline.<br>Thesis (Ph.D.)--Chinese University of Hong Kong, 2001.<br>Includes bibliographical references (p. 115-120).<br>Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web.<br>Electronic reproduction. Ann Arbor, MI : ProQuest Information and Learning Company, [200-] System requirements: Adobe Acrobat Reader. Available via World Wide Web.<br>Mode of access: World Wide Web.<br>Abstracts in English and Chinese.
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Xia, Chaohui. "Web-basierte Methoden zur Untersuchung von Affiliation-Angaben wissenschaftlicher Papiere." 2010. https://ul.qucosa.de/id/qucosa%3A17205.

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Bei der zunehmenden Anzahl von Papers spielt die Affiliationsanalyse eine größer werdende Rolle, man erstrebt zusätzlich zur bibliografischen Analyse, um weitere nützliche Information zu erhalten. So wird z.B. die Affiliation nach Instituten, Countrys, Regionen, Citys und Koordinaten, die aus der Originalaffiliation nicht direkt bekannt sind, analysiert, anschließend kann mit diesen Informationen weiter gearbeitet werden. Man kann die Affiliation mit dem gefundenen Ergebnis kontrollieren und verteilen. Weltweit existieren zahlreiche semantische Analysewerkzeuge. Hier soll die Rede von vier gru
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Libros sobre el tema "Classification ACMG"

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A FIELD GUIDE TO THE KEY PATTERNS ON THE BACKS OF UNITED STATES CERAMIC TILES, 1870S-1930S (3RD ED.). Architectural Research Associates, Brooklyn, NY, 2010.

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Capítulos de libros sobre el tema "Classification ACMG"

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Kingston, John. "Ontology, Knowledge Management, Knowledge Engineering and the ACM Classification Scheme." In Research and Development in Intelligent Systems XIX. Springer London, 2003. http://dx.doi.org/10.1007/978-1-4471-0651-7_15.

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Iqbal, Arif, R. Oppermann, A. Patel, and Kinshuk. "A Classification of Evaluation Methods for Intelligent Tutoring Systems." In Berichte des German Chapter of the ACM. Vieweg+Teubner Verlag, 1999. http://dx.doi.org/10.1007/978-3-322-99786-9_16.

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Zhuk, Dmitriy, Barnaby Martin, and Michał Wrona. "The complete classification for quantified equality constraints." In Proceedings of the 2023 Annual ACM-SIAM Symposium on Discrete Algorithms (SODA). Society for Industrial and Applied Mathematics, 2023. http://dx.doi.org/10.1137/1.9781611977554.ch103.

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Cai, Jin-Yi, Zhiguo Fu, and Shuai Shao. "New Planar P-time Computable Six-Vertex Models and a Complete Complexity Classification." In Proceedings of the 2021 ACM-SIAM Symposium on Discrete Algorithms (SODA). Society for Industrial and Applied Mathematics, 2021. http://dx.doi.org/10.1137/1.9781611976465.93.

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Guardo, Elena, and Adam Van Tuyl. "Classification of ACM sets of points in ℙ 1 × ℙ 1 $$\mathbb{P}^{1} \times \mathbb{P}^{1}$$." In Arithmetically Cohen-Macaulay Sets of Points in P^1 x P^1. Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-24166-1_4.

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Henson, John W., and Robert G. Resta. "Table 10. ACMG rules for variant classification." In Diagnosis and Management of Hereditary Cancer. Elsevier, 2021. http://dx.doi.org/10.1016/b978-0-323-90029-4.00010-9.

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Osińska Veslava and Bała Piotr. "Classification Visualization across Mapping on a Sphere." In Frontiers in Artificial Intelligence and Applications. IOS Press, 2008. https://doi.org/10.3233/978-1-58603-904-2-95.

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Existing classification schemes are visualized as hierarchical trees. Science data visualization requires a new method in information space modelling in order to reveal relations between class nodes. This paper describes a novel visualization concept of classification scheme using subject content metrics. We have mapped the document collection of Association for Computing Machinery (ACM) digital library to a sphere surface. To overcome the incorrectness of linear measures in indexes distances we calculated similarity matrix of themes and multidimensional scaling coordinates. The results show t
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Cillessen, Felix, Pim Steenbergh, and Jacob Hofdijk. "Towards Regional Population Health Management: A Prospective Analysis Using the Adjusted Clinical Groups Classification." In Studies in Health Technology and Informatics. IOS Press, 2024. http://dx.doi.org/10.3233/shti240430.

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This research seeks to assess the potential of regionally integrated health management for specific sub-populations, including the incorporation of self-management initiatives. It will achieve this by conducting a thorough stratification analysis of hospital data, utilizing the Adjusted Clinical Groups (ACG) classification system. The approach involves a retrospective review of healthcare data spanning five years, which includes patient demographics, health outcomes, and healthcare utilization metrics. We intend to use the ACG method to classify the patient population into pertinent groups tha
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M. Harvey, Evan, Murad Almasri, and Hugo R. Martinez. "Genetics of Cardiomyopathy." In Cardiomyopathy - Disease of the Heart Muscle [Working Title]. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.97010.

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Cardiomyopathies (CMs) encompass a heterogeneous group of structural and functional (systolic and diastolic) abnormalities of the myocardium and are either confined to the cardiovascular system or are part of a systemic disorder. CMs represent a leading cause of morbidity and mortality and account for a significant percentage of death and cardiac transplantation. The 2006 American Heart Association (AHA) classification grouped CMs into primary (genetic, mixed, or acquired) or secondary (i.e., infiltrative or autoimmune). In 2008, the European Society of Cardiology classification proposed subgr
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Hofdijk, Jacob, and Felix Cillessen. "Leveraging Patient-Need-Group Analysis to Address Multimorbidity in the Healthcare Network." In Studies in Health Technology and Informatics. IOS Press, 2025. https://doi.org/10.3233/shti250583.

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Multimorbidity poses substantial challenges in healthcare, primarily due to the increasing need for coordinated care among patients with multiple chronic conditions. This study utilizes the Adjusted Clinical Groups (ACG) classification to segment patients into Patient Need Groups (PNG), advocating a shift from condition-based to patient-centered integrated care. Key elements include fostering stakeholder acceptance, advancing infrastructure to support care coordination, and transitioning to multi-condition national quality standards. The study begins developing and implementing PNG care progra
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Actas de conferencias sobre el tema "Classification ACMG"

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Alesci, S. R., C. Hecking, B. Rackè, D. Janssen, and E. C. Dempfle. "Utility of ACMG classification to support interpretation of molecular genetic test results in patients with FVII deficiency." In GTH Congress 2023 – 67th Annual Meeting of the Society of Thrombosis and Haemostasis Research – The patient as a benchmark. Georg Thieme Verlag, 2023. http://dx.doi.org/10.1055/s-0042-1760573.

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Wang, Tao, and Bipin C. Desai. "Document Classification with ACM Subject Hierarchy." In 2007 Canadian Conference on Electrical and Computer Engineering. IEEE, 2007. http://dx.doi.org/10.1109/ccece.2007.203.

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De Chiara, Rosario, and Andrew Fish. "EulerView: article organisation within the ACM classification." In 2008 IEEE Symposium on Visual Languages and Human-Centric Computing (VL/HCC). IEEE, 2008. http://dx.doi.org/10.1109/vlhcc.2008.4639066.

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Lin, Xia, Mi Zhang, Haozhen Zhao, and Jan Buzydlowski. "Multi-view of the ACM classification system." In the 12th ACM/IEEE-CS joint conference. ACM Press, 2012. http://dx.doi.org/10.1145/2232817.2232909.

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Senel, Numan, Shrivatsa Udupa, and Gordon Elger. "Sensor Data Preprocessing in Road-Side Sensor Units." In FISITA World Congress 2021. FISITA, 2021. http://dx.doi.org/10.46720/f2021-acm-120.

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To improve safety, mitigate traffic congestion and to reduce pollution caused by vehicles, infrastructure-side sensors can be used, especially at critical locations in cities. In the future, infrastructural safeguarding has large potential, due to availability of advanced sensors (camera, radar, lidar) and vehicle-to-infrastructure(V2I) communications. Currently, camera-based systems are widely used to monitor traffic violations. A smart combination of multiple sensors like camera-RADAR or camera-LIDAR is used to determine the precise velocity and position of the traffic participants. In such
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Lopez,, Guillaume, Ko Uchida, and Atsunobu Kaminuma. "Guide Timing Control for In-vehicle Speech Interface using Driving Signal." In FISITA World Congress 2021. FISITA, 2021. http://dx.doi.org/10.46720/f2020-acm-084.

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In recent years, speech interfaces have been proposed for making shopping order or restaurant reservations while transmitting information only by speech. It is easy to imagine that such a system will be installed in cars soon. However, to use the speech interface that can realize such tasks while the driver is driving, the system needs to understand the driving situation of the driver and control the speech guide timing accordingly. We focused on the fact that there are scenes (SCD: Scenes of Concentrate Driving) where the driver temporarily interrupts the speech operation unconsciously to con
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Tome, Paulo. "Implementation of Data Science Techniques in the ACM Computing Classification System." In 2022 International Conference on Electrical, Computer, Communications and Mechatronics Engineering (ICECCME). IEEE, 2022. http://dx.doi.org/10.1109/iceccme55909.2022.9988283.

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Guturobu, Gabriel, Mihai Dascalu, Dominic Heutelbeck, Matthias Hemmje, Wim Westera, and Stefan Trausanmatu. "SEMANTIC ANNOTATION AND AUTOMATED TEXT CATEGORIZATION USING COHESION NETWORK ANALYSIS." In eLSE 2017. Carol I National Defence University Publishing House, 2017. http://dx.doi.org/10.12753/2066-026x-17-177.

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With the increasing amount of published scientific papers, it becomes paramount for learners and researchers alike to use tools that semantically annotate resources in order to facilitate the information retrieval process. Thus, we introduce a semantic annotation tool incorporated within our ReaderBench framework to provide recommendations regarding categories that should be used for automated labelling. Currently, the tool categorizes input documents based on the ACM Computing Classification System (http://dl.acm.org/ ccs_flat.cfm) taxonomy from 2012. The Semantic Annotation tool provides als
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Wang, Leiqi, Zijun Cheng, Qiujian Lv, Yan Wang, Shixiang Zhang, and Weiqing Huang. "ACG: Attack Classification on Encrypted Network Traffic using Graph Convolution Attention Networks." In 2023 26th International Conference on Computer Supported Cooperative Work in Design (CSCWD). IEEE, 2023. http://dx.doi.org/10.1109/cscwd57460.2023.10152599.

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Buzydlowski, Jan W., and Lillian N. Cassel. "Visualizing the Evolution of Information Retrieval via the ACM Computer Classification Codes." In 2021 ACM/IEEE Joint Conference on Digital Libraries (JCDL). IEEE, 2021. http://dx.doi.org/10.1109/jcdl52503.2021.00059.

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