نتائج البحث - "Conor Nodzak"

1

دورية أكاديمية

Multi-platform discovery of haplotype-resolved structural variation in human genomes

المؤلفون: Mark J. P. Chaisson, Ashley D. Sanders, Xuefang Zhao, Ankit Malhotra, David Porubsky, Tobias Rausch, Eugene J. Gardner, Oscar L. Rodriguez, Li Guo, Ryan L. Collins, Xian Fan, Jia Wen, Robert E. Handsaker, Susan Fairley, Zev N. Kronenberg, Xiangmeng Kong, Fereydoun Hormozdiari, Dillon Lee, Aaron M. Wenger, Alex R. Hastie, Danny Antaki, Thomas Anantharaman, Peter A. Audano, Harrison Brand, Stuart Cantsilieris, Han Cao, Eliza Cerveira, Chong Chen, Xintong Chen, Chen-Shan Chin, Zechen Chong, Nelson T. Chuang, Christine C. Lambert, Deanna M. Church, Laura Clarke, Andrew Farrell, Joey Flores, Timur Galeev, David U. Gorkin, Madhusudan Gujral, Victor Guryev, William Haynes Heaton, Jonas Korlach, Sushant Kumar, Jee Young Kwon, Ernest T. Lam, Jong Eun Lee, Joyce Lee, Wan-Ping Lee, Sau Peng Lee, Shantao Li, Patrick Marks, Karine Viaud-Martinez, Sascha Meiers, Katherine M. Munson, Fabio C. P. Navarro, Bradley J. Nelson, Conor Nodzak, Amina Noor, Sofia Kyriazopoulou-Panagiotopoulou, Andy W. C. Pang, Yunjiang Qiu, Gabriel Rosanio, Mallory Ryan, Adrian Stütz, Diana C. J. Spierings, Alistair Ward, AnneMarie E. Welch, Ming Xiao, Wei Xu, Chengsheng Zhang, Qihui Zhu, Xiangqun Zheng-Bradley, Ernesto Lowy, Sergei Yakneen, Steven McCarroll, Goo Jun, Li Ding, Chong Lek Koh, Bing Ren, Paul Flicek, Ken Chen, Mark B. Gerstein, Pui-Yan Kwok, Peter M. Lansdorp, Gabor T. Marth, Jonathan Sebat, Xinghua Shi, Ali Bashir, Kai Ye, Scott E. Devine, Michael E. Talkowski, Ryan E. Mills, Tobias Marschall, Jan O. Korbel, Evan E. Eichler, Charles Lee

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/1bf8e1b79b09479e9b177f1082c620e1Test

View record in DOAJ

النص الكامل

2

دورية أكاديمية

Critical assessment of genome interpretation consortium. CAGI, the critical assessment of genome interpretation, establishes progress and pprospects for computational genetic variant interpretation methods.

المؤلفون: Shantanu Jain, Constantina Bakolitsa, Steven E Brenner, Predrag Radivojac, John Moult, Susanna Repo, Roger A Hoskins, Gaia Andreoletti, Daniel Barsky, Ajithavalli Chellapan, Hoyin Chu, Navya Dabbiru, Naveen K Kollipara, Melissa Ly, Andrew J Neumann, Lipika R Pal, Eric Odell, Gaurav Pandey, Robin C Peters-Petrulewicz, Rajgopal Srinivasan, Stephen F Yee, Sri Jyothsna Yeleswarapu, Maya Zuhl, Ogun Adebali, Ayoti Patra, Michael A Beer, Raghavendra Hosur, Jian Peng, Brady M Bernard, Michael Berry, Shengcheng Dong, Alan P Boyle, Aashish Adhikari, Jingqi Chen, Zhiqiang Hu, Robert Wang, Yaqiong Wang, Maximilian Miller, Yanran Wang, Yana Bromberg, Paola Turina, Emidio Capriotti, James J Han, Kivilcim Ozturk, Hannah Carter, Giulia Babbi, Samuele Bovo, Pietro Di Lena, Pier Luigi Martelli, Castrense Savojardo, Rita Casadio, Melissa S Cline, Greet De Baets, Sandra Bonache, Orland Díez, Sara Gutiérrez-Enríquez, Alejandro Fernández, Gemma Montalban, Lars Ootes, Selen Özkan, Natàlia Padilla, Casandra Riera, Xavier De la Cruz, Mark Diekhans, Peter J Huwe, Qiong Wei, Qifang Xu, Roland L Dunbrack, Valer Gotea, Laura Elnitski, Gennady Margolin, Piero Fariselli, Ivan V Kulakovskiy, Vsevolod J Makeev, Dmitry D Penzar, Ilya E Vorontsov, Alexander V Favorov, Julia R Forman, Marcia Hasenahuer, Maria S Fornasari, Gustavo Parisi, Ziga Avsec, Muhammed H Çelik, Thi Yen Duong Nguyen, Julien Gagneur, Fang-Yuan Shi, Matthew D Edwards, Yuchun Guo, Kevin Tian, Haoyang Zeng, David K Gifford, Jonathan Göke, Jan Zaucha, Julian Gough, Graham R S Ritchie, Adam Frankish, Jonathan M Mudge, Jennifer Harrow, Erin L Young, Yao Yu, Chad D Huff, Katsuhiko Murakami, Yoko Nagai, Tadashi Imanishi, Christopher J Mungall, Julius O B Jacobsen, Dongsup Kim, Chan-Seok Jeong, David T Jones, Mulin Jun Li, Violeta Beleva Guthrie, Rohit Bhattacharya, Yun-Ching Chen, Christopher Douville, Jean Fan, Dewey Kim, David Masica, Noushin Niknafs, Sohini Sengupta, Collin Tokheim, Tychele N Turner, Hui Ting Grace Yeo, Rachel Karchin, Sunyoung Shin, Rene Welch, Sunduz Keles, Yue Li, Manolis Kellis, Carles Corbi-Verge, Alexey V Strokach, Philip M Kim, Teri E Klein, Rahul Mohan, Nicholas A Sinnott-Armstrong, Michael Wainberg, Anshul Kundaje, Nina Gonzaludo, Angel C Y Mak, Aparna Chhibber, Hugo Y K Lam, Dvir Dahary, Simon Fishilevich, Doron Lancet, Insuk Lee, Benjamin Bachman, Panagiotis Katsonis, Rhonald C Lua, Stephen J Wilson, Olivier Lichtarge, Rajendra R Bhat, Laksshman Sundaram, Vivek Viswanath, Riccardo Bellazzi, Giovanna Nicora, Ettore Rizzo, Ivan Limongelli, Aziz M Mezlini, Ray Chang, Serra Kim, Carmen Lai, Robert O'Connor, Scott Topper, Jeroen van den Akker, Alicia Y Zhou, Anjali D Zimmer, Gilad Mishne, Timothy R Bergquist, Marcus R Breese, Rafael F Guerrero, Yuxiang Jiang, Nikki Kiga, Biao Li, Matthew Mort, Kymberleigh A Pagel, Vikas Pejaver, Moses H Stamboulian, Janita Thusberg, Sean D Mooney, Nuttinee Teerakulkittipong, Chen Cao, Kunal Kundu, Yizhou Yin, Chen-Hsin Yu, Michael Kleyman, Chiao-Feng Lin, Mary Stackpole, Stephen M Mount, Gökcen Eraslan, Nikola S Mueller, Tatsuhiko Naito, Aliz R Rao, Johnathan R Azaria, Aharon Brodie, Yanay Ofran, Aditi Garg, Debnath Pal, Alex Hawkins-Hooker, Henry Kenlay, John Reid, Eliseos J Mucaki, Peter K Rogan, Jana M Schwarz, David B Searls, Gyu Rie Lee, Chaok Seok, Andreas Krämer, Sohela Shah, ChengLai V Huang, Jack F Kirsch, Maxim Shatsky, Yue Cao, Haoran Chen, Mostafa Karimi, Oluwaseyi Moronfoye, Yuanfei Sun, Yang Shen, Ron Shigeta, Colby T Ford, Conor Nodzak, Aneeta Uppal, Xinghua Shi, Thomas Joseph, Sujatha Kotte, Sadhna Rana, Aditya Rao, V G Saipradeep, Naveen Sivadasan, Uma Sunderam, Mario Stanke, Andrew Su, Ivan Adzhubey, Daniel M Jordan, Shamil Sunyaev, Frederic Rousseau, Joost Schymkowitz, Joost Van Durme, Sean V Tavtigian, Marco Carraro, Manuel Giollo, Silvio C E Tosatto, Orit Adato, Liran Carmel, Noa E Cohen, Tzila Fenesh, Tamar Holtzer, Tamar Juven-Gershon, Ron Unger, Abhishek Niroula, Ayodeji Olatubosun, Jouni Väliaho, Yang Yang, Mauno Vihinen, Mary E Wahl, Billy Chang, Ka Chun Chong, Inchi Hu, Rui Sun, William Ka Kei Wu, Xiaoxuan Xia, Benny C Zee, Maggie H Wang, Meng Wang, Chunlei Wu, Yutong Lu, Ken Chen, Yuedong Yang, Christopher M Yates, Anat Kreimer, Zhongxia Yan, Nir Yosef, Huying Zhao, Zhipeng Wei, Zhaomin Yao, Fengfeng Zhou, Lukas Folkman, Yaoqi Zhou, Roxana Daneshjou, Russ B Altman, Fumitaka Inoue, Nadav Ahituv, Adam P Arkin, Federica Lovisa, Paolo Bonvini, Sarah Bowdin, Stefano Gianni, Elide Mantuano, Velia Minicozzi, Leonore Novak, Alessandra Pasquo, Annalisa Pastore, Maria Petrosino, Rita Puglisi, Angelo Toto, Liana Veneziano, Roberta Chiaraluce, Mad P Ball, Jason R Bobe, George M Church, Valerio Consalvi, David N Cooper, Bethany A Buckley, Molly B Sheridan, Garry R Cutting, Maria Chiara Scaini, Kamil J Cygan, Alger M Fredericks, David T Glidden, Christopher Neil, Christy L Rhine, William G Fairbrother, Aileen Y Alontaga, Aron W Fenton, Kenneth A Matreyek, Lea M Starita, Douglas M Fowler, Britt-Sabina Löscher, Andre Franke, Scott I Adamson, Brenton R Graveley, Joe W Gray, Mary J Malloy, John P Kane, Maria Kousi, Nicholas Katsanis, Max Schubach, Martin Kircher, Paul L F Tang, Pui-Yan Kwok, Richard H Lathrop, Wyatt T Clark, Guoying K Yu, Jonathan H LeBowitz, Francesco Benedicenti, Elisa Bettella, Stefania Bigoni, Federica Cesca, Isabella Mammi, Cristina Marino-Buslje, Donatella Milani, Angela Peron, Roberta Polli, Stefano Sartori, Franco Stanzial, Irene Toldo, Licia Turolla, Maria C Aspromonte, Mariagrazia Bellini, Emanuela Leonardi, Xiaoming Liu, Christian Marshall, W Richard McCombie, Lisa Elefanti, Chiara Menin, M Stephen Meyn, Alessandra Murgia, Kari C Y Nadeau, Susan L Neuhausen, Robert L Nussbaum, Mehdi Pirooznia, James B Potash, Dago F Dimster-Denk, Jasper D Rine, Jeremy R Sanford, Michael Snyder, Atina G Cote, Song Sun, Marta W Verby, Jochen Weile, Frederick P Roth, Ryan Tewhey, Pardis C Sabeti, Joan Campagna, Marwan M Refaat, Julianne Wojciak, Soren Grubb, Nicole Schmitt, Jay Shendure, Amanda B Spurdle, Dimitri J Stavropoulos, Nephi A Walton, Peter P Zandi, Elad Ziv, Wylie Burke, Flavia Chen, Lawrence R Carr, Selena Martinez, Jodi Paik, Julie Harris-Wai, Mark Yarborough, Stephanie M Fullerton, Barbara A Koenig, Gregory McInnes, Dustin Shigaki, John-Marc Chandonia, Mabel Furutsuki, Laura Kasak, Changhua Yu, Rui Chen, Iddo Friedberg, Gad A Getz, Qian Cong, Lisa N Kinch, Jing Zhang, Nick V Grishin, Alin Voskanian, Maricel G Kann, Elizabeth Tran, Nilah M Ioannidis, Jesse M Hunter, Rupa Udani, Binghuang Cai, Alexander A Morgan, Artem Sokolov, Joshua M Stuart, Giovanni Minervini, Alexander M Monzon, Serafim Batzoglou, Atul J Butte, Marc S Greenblatt, Reece K Hart, Ryan Hernandez, Tim J P Hubbard, Scott Kahn, Anne O'Donnell-Luria, Pauline C Ng, John Shon, Joris Veltman, Justin M Zook

المساهمون: Jain, Shantanu, Bakolitsa, Constantina, E Brenner, Steven, Radivojac, Predrag, Moult, John, Repo, Susanna, A Hoskins, Roger, Andreoletti, Gaia, Barsky, Daniel, Chellapan, Ajithavalli, Chu, Hoyin, Dabbiru, Navya, K Kollipara, Naveen, Ly, Melissa, J Neumann, Andrew, R Pal, Lipika, Odell, Eric, Pandey, Gaurav, C Peters-Petrulewicz, Robin, Srinivasan, Rajgopal, F Yee, Stephen, Jyothsna Yeleswarapu, Sri, Zuhl, Maya, Adebali, Ogun, Patra, Ayoti, A Beer, Michael, Hosur, Raghavendra, Peng, Jian, M Bernard, Brady, Berry, Michael, Dong, Shengcheng, P Boyle, Alan, Adhikari, Aashish, Chen, Jingqi, Hu, Zhiqiang, Wang, Robert, Wang, Yaqiong, Miller, Maximilian, Wang, Yanran, Bromberg, Yana, Turina, Paola, Capriotti, Emidio, J Han, Jame, Ozturk, Kivilcim, Carter, Hannah, Babbi, Giulia, Bovo, Samuele, Di Lena, Pietro, Luigi Martelli, Pier, Savojardo, Castrense, Casadio, Rita, S Cline, Melissa, De Baets, Greet, Bonache, Sandra, Díez, Orland, Gutiérrez-Enríquez, Sara, Fernández, Alejandro, Montalban, Gemma, Ootes, Lar, Özkan, Selen, Padilla, Natàlia, Riera, Casandra, De la Cruz, Xavier, Diekhans, Mark, J Huwe, Peter, Wei, Qiong, Xu, Qifang, L Dunbrack, Roland, Gotea, Valer, Elnitski, Laura, Margolin, Gennady, Fariselli, Piero, V Kulakovskiy, Ivan, J Makeev, Vsevolod, D Penzar, Dmitry, E Vorontsov, Ilya, V Favorov, Alexander, R Forman, Julia, Hasenahuer, Marcia, S Fornasari, Maria, Parisi, Gustavo, Avsec, Ziga, H Çelik, Muhammed, Yen Duong Nguyen, Thi, Gagneur, Julien, Shi, Fang-Yuan, D Edwards, Matthew, Guo, Yuchun, Tian, Kevin, Zeng, Haoyang, K Gifford, David, Göke, Jonathan, Zaucha, Jan, Gough, Julian, S Ritchie, Graham R, Frankish, Adam, M Mudge, Jonathan, Harrow, Jennifer, L Young, Erin, Yu, Yao

مصطلحات موضوعية: genetic variant, missense mutation, protein stability

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38389099; volume:22; issue:22;25(1):53.; firstpage:1; lastpage:46; numberofpages:46; journal:GENOME BIOLOGY; https://hdl.handle.net/11573/1703621Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85185859716

الإتاحة: https://doi.org/10.1186/s13059-023-03113-6Test
https://hdl.handle.net/11573/1703621Test

View record in BASE

3

Statistical and Machine Learning Methods for eQTL Analysis

المؤلفون: Junjie, Chen, Conor, Nodzak

المصدر: Methods in molecular biology (Clifton, N.J.). 2082

مصطلحات موضوعية: Machine Learning, Data Interpretation, Statistical, Quantitative Trait Loci, Chromosome Mapping, Computational Biology, Gene Expression, Humans, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::04e745a5076df43f52852df89910043cTest
https://pubmed.ncbi.nlm.nih.gov/31849010Test

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QTL Analysis Beyond eQTLs

المؤلفون: Jia, Wen, Conor, Nodzak, Xinghua, Shi

المصدر: Methods in molecular biology (Clifton, N.J.). 2082

مصطلحات موضوعية: Phenotype, Research, Quantitative Trait Loci, Chromosome Mapping, Gene Expression, Genetic Variation, Humans, DNA Methylation, Epigenesis, Genetic, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::ee4a82268d930129f27a9f15c9bc6204Test
https://pubmed.ncbi.nlm.nih.gov/31849017Test

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Introductory Methods for eQTL Analyses

المؤلفون: Conor, Nodzak

المصدر: Methods in molecular biology (Clifton, N.J.). 2082

مصطلحات موضوعية: Genetic Linkage, Gene Expression Profiling, Quantitative Trait Loci, Chromosome Mapping, Computational Biology, Gene Expression, Genetic Variation, Confounding Factors, Epidemiologic, Genomics, Software, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::c9ebedb415ccda0ce3ec1c2760c9c3abTest
https://pubmed.ncbi.nlm.nih.gov/31849004Test

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QTL Analysis Beyond eQTLs

المؤلفون: Xinghua Shi, Jia Wen, Conor Nodzak

المصدر: Methods in Molecular Biology ISBN: 9781071600252

مصطلحات موضوعية: 0303 health sciences, Potential impact, Complex disease, Genetic variants, food and beverages, Computational biology, Biology, Qtl analysis, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Expression quantitative trait loci, Association mapping, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d0523374abbc1dcc938e32e942253470Test
https://doi.org/10.1007/978-1-0716-0026-9_14Test

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Statistical and Machine Learning Methods for eQTL Analysis

المؤلفون: Junjie Chen, Conor Nodzak

المصدر: Methods in Molecular Biology ISBN: 9781071600252

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::030b1c1dc5d36665e002e77a5d126035Test
https://doi.org/10.1007/978-1-0716-0026-9_7Test

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Introductory Methods for eQTL Analyses

المؤلفون: Conor Nodzak

المصدر: Methods in Molecular Biology ISBN: 9781071600252

مصطلحات موضوعية: 0303 health sciences, 03 medical and health sciences, 0302 clinical medicine, Computer science, 030220 oncology & carcinogenesis, Expression quantitative trait loci, Genomics, Variation (game tree), Data science, Phenotype, Field (computer science), 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e1a32ae7ae8beebee8172d339a740f7bTest
https://doi.org/10.1007/978-1-0716-0026-9_1Test

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Prediction of the Effect of Naturally Occurring Missense Mutations on CellularN-Acetyl-GlucosaminidaseEnzymatic Activity

المؤلفون: Uppal A, Colby T. Ford, Conor Nodzak, Xinghua Shi

مصطلحات موضوعية: Mutation (genetic algorithm), SNP, Missense mutation, Computational biology, Biology, Gene mutation, Exome, Peptide sequence, Genome, Allele frequency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13b6382d671cf9563d017e2c9acc359bTest

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Multi-platform discovery of haplotype-resolved structural variation in human genomes

المؤلفون: Paul Flicek, Kai Ye, Diana C.J. Spierings, David U. Gorkin, Susan Fairley, Mark Chaisson, Shantao Li, Xinghua Shi, Ming Xiao, Jee Young Kwon, Danny Antaki, Patrick Marks, Anne Marie E. Welch, Qihui Zhu, Katherine M. Munson, Sau Peng Lee, Deanna M. Church, Pui-Yan Kwok, Han Cao, Goo Jun, Joey Flores, Sascha Meiers, Chong-Lek Koh, Jonathan Sebat, Thomas Anantharaman, Alistair Ward, Ryan L. Collins, Zechen Chong, Aaron M. Wenger, Chong Chen, Ali Bashir, Fabio C. P. Navarro, Wan-Ping Lee, Sergei Yakneen, Amina Noor, Sushant Kumar, Xiangmeng Kong, Chen-Shan Chin, Peter A. Audano, Peter M. Lansdorp, Scott E. Devine, Steven A. McCarroll, Dillon Lee, Gabriel Rosanio, Ernesto Lowy, Jan O. Korbel, Adrian M. Stütz, Ernest T. Lam, Victor Guryev, Madhusudan Gujral, Tobias Marschall, Li Guo, Oscar L. Rodriguez, Fereydoun Hormozdiari, Zev N. Kronenberg, Mallory Ryan, Bradley J. Nelson, Ankit Malhotra, Joyce V. Lee, Xian Fan, Nelson T. Chuang, Eugene J. Gardner, Timur R. Galeev, Robert E. Handsaker, David Porubsky, Jonas Korlach, Conor Nodzak, Laura Clarke, Tobias Rausch, Michael E. Talkowski, Chengsheng Zhang, Ryan E. Mills, Jong Eun Lee, Andy Wing Chun Pang, Andrew Farrell, Li Ding, Mark Gerstein, Yunjiang Qiu, Sofia Kyriazopoulou-Panagiotopoulou, Karine A. Viaud-Martinez, Xiangqun Zheng-Bradley, Stuart Cantsilieris, Bing Ren, Christine C. Lambert, Xintong Chen, Xuefang Zhao, Ken Chen, Ashley D. Sanders, Charles Lee, William Haynes Heaton, Evan E. Eichler, Gabor T. Marth, Jia Wen, Wei Xu, Alex Hastie, Eliza Cerveira, Harrison Brand

المساهمون: Groningen Research Institute for Asthma and COPD (GRIAC), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Stem Cell Aging Leukemia and Lymphoma (SALL)

المصدر: Nature communications, vol 10, iss 1
Nature Communications
Nature Communications, 10(1):1784. Nature Publishing Group
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Science, General Physics and Astronomy, Genomics, 02 engineering and technology, Computational biology, Human genetic variation, Biology, Genome, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, Article, Structural variation, 03 medical and health sciences, Databases, Genetic, INDEL Mutation, Databases, Genetic, Genetics, Humans, 2.1 Biological and endogenous factors, 1000 Genomes Project, Aetiology, lcsh:Science, Whole genome sequencing, Multidisciplinary, Whole Genome Sequencing, Genome, Human, Human Genome, Chromosome Mapping, High-Throughput Nucleotide Sequencing, General Chemistry, 021001 nanoscience & nanotechnology, 030104 developmental biology, Haplotypes, Genomic Structural Variation, lcsh:Q, Human genome, Generic health relevance, 0210 nano-technology, human activities, Algorithms, Human, Biotechnology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1812b43f37aee646c5f398fffc41b50aTest
https://escholarship.org/uc/item/78k7g077Test

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