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Auswahl der wissenschaftlichen Literatur zum Thema „ACMG classification“
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Zeitschriftenartikel zum Thema "ACMG classification"
Lugeiro, Palloma C., Betsaida Urtremari, Lucas S. Santana, Elisangela P. S. Quedas und 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 (01.05.2021): A1014. http://dx.doi.org/10.1210/jendso/bvab048.2074.
Der volle Inhalt der QuelleCristofoli, Francesca, Muharrem Daja, Paolo Enrico Maltese, Giulia Guerri, Benedetta Tanzi, Roberta Miotto, Gabriele Bonetti et al. „MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations“. Genes 14, Nr. 8 (08.08.2023): 1600. http://dx.doi.org/10.3390/genes14081600.
Der volle Inhalt der QuelleMattivi, Connor L., J. Martijn Bos, Richard D. Bagnall, Natalie Nowak, John R. Giudicessi, Steve R. Ommen, Christopher Semsarian und Michael J. Ackerman. „Clinical Utility of a Phenotype-Enhanced MYH7 -Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing“. Circulation: Genomic and Precision Medicine 13, Nr. 5 (Oktober 2020): 453–59. http://dx.doi.org/10.1161/circgen.120.003039.
Der volle Inhalt der QuelleCheng, Liting, Xiaoyan Li, Lin Zhao, Zefeng Wang, Junmeng Zhang, Zhuo Liang und Yongquan Wu. „Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework“. International Journal of Genomics 2020 (26.02.2020): 1–12. http://dx.doi.org/10.1155/2020/2415850.
Der volle Inhalt der QuelleBrown, Angela, Mansour Zamanpoor, Donald R. Love und 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, Nr. 4 (22.12.2019): 324. http://dx.doi.org/10.18295/squmj.2019.19.04.008.
Der volle Inhalt der QuelleCristofoli, Francesca, Elisa Sorrentino, Giulia Guerri, Roberta Miotto, Roberta Romanelli, Alessandra Zulian, Stefano Cecchin et al. „Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting“. Genes 12, Nr. 12 (25.11.2021): 1885. http://dx.doi.org/10.3390/genes12121885.
Der volle Inhalt der QuelleLiu, Yichuan, Hui-Qi Qu, Adam S. Wenocur, Jingchun Qu, Xiao Chang, Joseph Glessner, Patrick Sleiman, Lifeng Tian und Hakon Hakonarson. „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, Nr. 1 (01.12.2020): e20506. http://dx.doi.org/10.2196/20506.
Der volle Inhalt der QuelleTavtigian, Sean V., Marc S. Greenblatt, Steven M. Harrison, Robert L. Nussbaum, Snehit A. Prabhu, Kenneth M. Boucher und Leslie G. Biesecker. „Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework“. Genetics in Medicine 20, Nr. 9 (04.01.2018): 1054–60. http://dx.doi.org/10.1038/gim.2017.210.
Der volle Inhalt der QuelleLattante, Serena, Giuseppe Marangi, Paolo Niccolò Doronzio, Amelia Conte, Giulia Bisogni, Marcella Zollino und Mario Sabatelli. „High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines“. Genes 11, Nr. 10 (24.09.2020): 1123. http://dx.doi.org/10.3390/genes11101123.
Der volle Inhalt der QuelleDeMille, Desiree, Jamie McDonald, Carmelo Bernabeu, Hilary Racher, Carla Olivieri, Claudia Cantarini, Anna Sbalchiero et al. „Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1“. Human Mutation 2024 (18.05.2024): 1–13. http://dx.doi.org/10.1155/2024/3043736.
Der volle Inhalt der QuelleDissertationen zum Thema "ACMG classification"
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.
Der volle Inhalt der QuelleHereditary long QT syndrome type 2 (LQTS2) is a cardiac rhythm disorder caused by loss-of-function mutations in the KCNH2 gene, encoding the Herg cardiac ion channel. Today, over 3,000 variants of the KCNH2 gene are listed in the international ClinVar database, but the majority are classified as Variants of Unknown Significance (VUS), as their potential pathogenicity has yet to be determined. Reclassification of these VUS is essential to improve follow-up of affected individuals. This project focused on the study of variants identified in the French Bamacœur database, with the main aim of rapidly reclassifying VUSs. We studied 303 variants in total, reported in the French database Bamacoeur including 201 VUS, 81 pathogenic controls and 21 benign controls. All biophysical parameters are measured, including current amplitude, activation and inactivation curves and kinetics. Z-score values are used to determine regions of normal or abnormal functionality. The reclassification of VUS is made possible given the high level of evidence in this study. We identified 151/201 VUS variants in the normal function zone and 50 variants in the abnormal function zone. In addition, we identified regionspecific abnormalities in the hERG sequence. These data will be used to create a database integrating functional, clinical and genetic information, providing a valuable tool for clinicians in the diagnosis and prevention of LQTS2
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.
Der volle Inhalt der QuelleAdvisor: 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.
Chen, Yinlin. „A High-quality Digital Library Supporting Computing Education: The Ensemble Approach“. Diss., Virginia Tech, 2017. http://hdl.handle.net/10919/78750.
Der volle Inhalt der QuellePh. D.
Herrmann, Kai, Hannes Voigt und Wolfgang Lehner. „Online horizontal partitioning of heterogeneous data“. De Gruyter, 2014. https://tud.qucosa.de/id/qucosa%3A72923.
Der volle Inhalt der Quelle„An automatic classification of document (ACM) for knowledge management“. 2001. http://library.cuhk.edu.hk/record=b6073347.
Der volle Inhalt der QuelleThesis (Ph.D.)--Chinese University of Hong Kong, 2001.
Includes bibliographical references (p. 115-120).
Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web.
Electronic reproduction. Ann Arbor, MI : ProQuest Information and Learning Company, [200-] System requirements: Adobe Acrobat Reader. Available via World Wide Web.
Mode of access: World Wide Web.
Abstracts in English and Chinese.
Xia, Chaohui. „Web-basierte Methoden zur Untersuchung von Affiliation-Angaben wissenschaftlicher Papiere“. 2010. https://ul.qucosa.de/id/qucosa%3A17205.
Der volle Inhalt der QuelleBücher zum Thema "ACMG classification"
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.
Den vollen Inhalt der Quelle findenBuchteile zum Thema "ACMG classification"
Kingston, John. „Ontology, Knowledge Management, Knowledge Engineering and the ACM Classification Scheme“. In Research and Development in Intelligent Systems XIX, 207–20. London: Springer London, 2003. http://dx.doi.org/10.1007/978-1-4471-0651-7_15.
Der volle Inhalt der QuelleIqbal, Arif, R. Oppermann, A. Patel und Kinshuk. „A Classification of Evaluation Methods for Intelligent Tutoring Systems“. In Berichte des German Chapter of the ACM, 169–81. Wiesbaden: Vieweg+Teubner Verlag, 1999. http://dx.doi.org/10.1007/978-3-322-99786-9_16.
Der volle Inhalt der QuelleZhuk, Dmitriy, Barnaby Martin und Michał Wrona. „The complete classification for quantified equality constraints“. In Proceedings of the 2023 Annual ACM-SIAM Symposium on Discrete Algorithms (SODA), 2746–60. Philadelphia, PA: Society for Industrial and Applied Mathematics, 2023. http://dx.doi.org/10.1137/1.9781611977554.ch103.
Der volle Inhalt der QuelleCai, Jin-Yi, Zhiguo Fu und 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), 1535–47. Philadelphia, PA: Society for Industrial and Applied Mathematics, 2021. http://dx.doi.org/10.1137/1.9781611976465.93.
Der volle Inhalt der QuelleGuardo, Elena, und 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, 41–52. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-24166-1_4.
Der volle Inhalt der QuelleHenson, John W., und Robert G. Resta. „Table 10. ACMG rules for variant classification“. In Diagnosis and Management of Hereditary Cancer, 71–72. Elsevier, 2021. http://dx.doi.org/10.1016/b978-0-323-90029-4.00010-9.
Der volle Inhalt der QuelleCillessen, Felix, Pim Steenbergh und 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.
Der volle Inhalt der QuelleM. Harvey, Evan, Murad Almasri und 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.
Der volle Inhalt der QuelleKonferenzberichte zum Thema "ACMG classification"
Alesci, S. R., C. Hecking, B. Rackè, D. Janssen und 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.
Der volle Inhalt der QuelleWang, Tao, und 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.
Der volle Inhalt der QuelleDe Chiara, Rosario, und 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.
Der volle Inhalt der QuelleLin, Xia, Mi Zhang, Haozhen Zhao und Jan Buzydlowski. „Multi-view of the ACM classification system“. In the 12th ACM/IEEE-CS joint conference. New York, New York, USA: ACM Press, 2012. http://dx.doi.org/10.1145/2232817.2232909.
Der volle Inhalt der QuelleSenel, Numan, Shrivatsa Udupa und 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.
Der volle Inhalt der QuelleLopez,, Guillaume, Ko Uchida und 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.
Der volle Inhalt der QuelleTome, 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.
Der volle Inhalt der QuelleGuturobu, Gabriel, Mihai Dascalu, Dominic Heutelbeck, Matthias Hemmje, Wim Westera und 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.
Der volle Inhalt der QuelleWang, Leiqi, Zijun Cheng, Qiujian Lv, Yan Wang, Shixiang Zhang und 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.
Der volle Inhalt der QuelleBuzydlowski, Jan W., und 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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