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1دورية أكاديمية
المؤلفون: Ryo Yamamoto, Ryan Chung, Juan Manuel Vazquez, Huanjie Sheng, Philippa L. Steinberg, Nilah M. Ioannidis, Peter H. Sudmant
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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2دورية أكاديمية
المؤلفون: Nilah M. Ioannidis, Wei Wang, Nicholas A. Furlotte, David A. Hinds, andMe Research Team, Carlos D. Bustamante, Eric Jorgenson, Maryam M. Asgari, Alice S. Whittemore
المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-9 (2018)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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3دورية أكاديمية
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
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المؤلفون: Aniketh Janardhan Reddy, Michael H. Herschl, Sathvik Kolli, Amy X. Lu, Xinyang Geng, Aviral Kumar, Patrick D. Hsu, Sergey Levine, Nilah M. Ioannidis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e9e641a78af0c16c2e7d90c51f963f34Test
https://doi.org/10.1101/2023.02.24.529941Test -
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المؤلفون: Eric Jorgenson, David A. Hinds, Nicholas A. Furlotte, Nilah M. Ioannidis, Carlos Bustamante, Wei Wang, Alice S. Whittemore, Maryam M. Asgari
المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-9 (2018)
Nature Communicationsمصطلحات موضوعية: 0301 basic medicine, Candidate gene, Skin Neoplasms, Science, General Physics and Astronomy, Genome-wide association study, Biology, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Databases, Genetic, Genetic predisposition, Humans, Genetic Predisposition to Disease, lcsh:Science, Gene, Genetic association, Regulation of gene expression, Genetics, Multidisciplinary, Reproducibility of Results, General Chemistry, 3. Good health, Gene Expression Regulation, Neoplastic, 030104 developmental biology, Genetic epidemiology, Genetic Loci, 030220 oncology & carcinogenesis, Carcinoma, Squamous Cell, lcsh:Q, Imputation (genetics)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::488c6adf9c954483c89e6e1f20ed578cTest
http://link.springer.com/article/10.1038/s41467-018-06149-6Test -
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المؤلفون: Nilah M. Ioannidis, Zhenqin Wu, James Zou
المصدر: Bioinformatics
مصطلحات موضوعية: Statistics and Probability, Candidate gene, Quantitative Trait Loci, Inference, Genome-wide association study, Computational biology, Biology, Biochemistry, Polymorphism, Single Nucleotide, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Humans, Molecular Biology, Gene, 030304 developmental biology, Genetic association, 0303 health sciences, Chromosome Mapping, Original Papers, Computer Science Applications, Histone Code, Computational Mathematics, Phenotype, Computational Theory and Mathematics, Expression quantitative trait loci, Trait, 030217 neurology & neurosurgery, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d07274e74a98c9049b10dfab5230fe7dTest
https://europepmc.org/articles/PMC7575052Test/ -
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المؤلفون: Sumit Middha, Graham G. Giles, Anthony M. Musolf, Predrag Radivojac, Johanna Schleutker, Chih-Lin Hsieh, Robert J. MacInnis, Zsofia Kote-Jarai, Christiane Maier, Emily R. Holzinger, Janet L. Stanford, Weiva Sieh, John D. Carpten, Joan E. Bailey-Wilson, Saurabh Baheti, Trevor Hastie, Shannon K. McDonnell, Lisa A. Cannon-Albright, Joseph H. Rothstein, Danielle M. Karyadi, Vikas Pejaver, Elaine A. Ostrander, Diptasri Mandal, Jianfeng Xu, Olivier Cussenot, Daniel J. Schaid, William B. Isaacs, Craig C. Teerlink, Isaac J. Powell, Ethan M. Lange, Nilah M. Ioannidis, Geraldine Cancel-Tassin, William J. Catalona, Qing Li, Alice S. Whittemore, Kathleen A. Cooney, Rosalind A. Eeles, William D. Foulkes, Stephen N. Thibodeau, Fredrik Wiklund, Carlos Bustamante
المصدر: The American Journal of Human Genetics. 99:877-885
مصطلحات موضوعية: 0301 basic medicine, DNA Mutational Analysis, Mutation, Missense, Biology, ta3111, Article, 03 medical and health sciences, Gene Frequency, Genetics, Humans, Missense mutation, Disease, Exome, Overall performance, Allele frequency, Genetics (clinical), Exome sequencing, Pathogenicity, Ensemble learning, 030104 developmental biology, ROC Curve, Area Under Curve, Mutation (genetic algorithm), Software
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca7f9cb869537edaeda45ecd8fa8a0caTest
https://doi.org/10.1016/j.ajhg.2016.08.016Test -
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المؤلفون: Alice S. Whittemore, Maryam M. Asgari, Eric Jorgenson, Wei Wang, Jacqueline Itnyre, Thomas J. Hoffmann, Nilah M. Ioannidis
المصدر: Journal of Investigative Dermatology. 136:930-937
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Linkage disequilibrium, Skin Neoplasms, Genotype, Locus (genetics), Genome-wide association study, Single-nucleotide polymorphism, Dermatology, Biology, Polymorphism, Single Nucleotide, Biochemistry, Article, California, White People, Cohort Studies, 03 medical and health sciences, TP63, medicine, Humans, Genetic Predisposition to Disease, Basal cell carcinoma, Molecular Biology, Genetics, Intergenic SNP, Cell Biology, Middle Aged, medicine.disease, 030104 developmental biology, Genetic Loci, Case-Control Studies, Carcinoma, Squamous Cell, Intronic SNP, Female, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fed580d4d4338c2285e836d286c9920dTest
https://doi.org/10.1016/j.jid.2016.01.013Test -
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المؤلفون: Nilah M. Ioannidis, Eric Jorgenson, Emmanuel Mignot, Alice S. Whittemore, Shadmehr Demehri, Maryam M. Asgari, Wei Wang, Hanna Ollila
المصدر: Cancer immunology, immunotherapy : CII. 67(7)
مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Skin Neoplasms, Genotype, Immunology, Genes, MHC Class II, Single-nucleotide polymorphism, Genome-wide association study, Human leukocyte antigen, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Risk Factors, medicine, Immunology and Allergy, Humans, Allele, Genetic association, Genetics, Haplotype, medicine.disease, White (mutation), 030104 developmental biology, Oncology, Carcinoma, Squamous Cell, Skin cancer, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ce36ea8af167ca23c8a7216dead0e13Test
https://pubmed.ncbi.nlm.nih.gov/29754218Test -
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المصدر: The Journal of investigative dermatology. 138(12)
مصطلحات موضوعية: Male, Skin Neoplasms, Dermatology, Biochemistry, California, White People, Cohort Studies, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Medicine, Humans, Molecular Biology, Early Detection of Cancer, Aged, Squamous cell cancer, Models, Statistical, Receiver operating characteristic, business.industry, Incidence (epidemiology), Incidence, Actinic keratosis, Cell Biology, Squamous cell skin cancer, Middle Aged, medicine.disease, Prognosis, Research Design, 030220 oncology & carcinogenesis, Cohort, Carcinoma, Squamous Cell, Female, Neoplasm Recurrence, Local, business, Risk assessment, Delivery of Health Care, Healthcare system, Demography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9454e24cc2d5227528c089410929063Test
https://pubmed.ncbi.nlm.nih.gov/30472995Test