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المؤلفون: Eric F. Tsung, Voichita D. Marinescu, Isaac S. Kohane, Zhaohui Cai, Alberto Riva, Marco F. Ramoni
المصدر: Human Mutation. 24:178-184
مصطلحات موضوعية: Linkage disequilibrium, dbSNP, Protein domain, Mutation, Missense, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Predictive Value of Tests, Databases, Genetic, Genetics, Humans, Missense mutation, Genotyping, Gene, Conserved Sequence, Genetics (clinical), Genetic association, Models, Genetic, Computational Biology, Bayes Theorem, Protein Structure, Tertiary, Neural Networks, Computer, Peptides, Algorithms, Transcription Factors
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المؤلفون: L. McDade, Eric D. Green, Aravinda Chakravarti, Susan Lindsay, Justin Paschall, Aylwyn Scally, Deborah A. Nickerson, Chip Stewart, Stephen T. Sherry, Chunlin Xiao, Alex Reynolds, Carol Scott, H. M. Khouri, Pardis C. Sabeti, Xinmeng Jasmine Mu, Stephen B. Montgomery, Eric Banks, Gabor T. Marth, A. Caprio, Xiaole Zheng, Philip Awadalla, Qunyuan Zhang, Wei Chen, Matthew N. Bainbridge, Donna Muzny, Steven A. McCarroll, Jeffrey M. Kidd, Honglong Wu, Audrey Duncanson, Vladimir Makarov, Lilia M. Iakoucheva, Mark Gerstein, Han-Jun Jin, Can Alkan, Iman Hajirasouliha, T. J. Fennell, C. R. Juenger, J. Kidd, Chris Tyler-Smith, Qasim Ayub, D. Ashworth, Kristian Cibulskis, Yutao Fu, William M. McLaren, Sol Katzman, Yujun Zhang, Rajini R Haraksingh, A. Kebbel, Stuart L. Schreiber, Manual Rivas, Onur Sakarya, Tobias Rausch, Yuan Chen, M. Bachorski, Matthew E. Hurles, N. C. Clemm, Wei Wang, Xiangqun Zheng-Bradley, Adrian M. Sütz, Thomas M. Keane, E. Bank, Stephen F. McLaughlin, Javier Herrero, Jon Keebler, Simon Myers, Aleksandr Morgulis, James Nemesh, Jing Leng, Molly Przeworski, Alon Keinan, Lorraine Toji, Ilya Shlyakhter, Joshua M. Korn, Martine Zilversmit, Luke Jostins, Jun Wang, Jared Maguire, J. M. Korn, Ryan E. Mills, Seungtai Yoon, Bo Wang, F. M. De La Vega, Heng Li, L. Guccione, Laura Clarke, Huisong Zheng, Jeffrey K. Ichikawa, K. Kao, Kirill Rotmistrovsky, L. Gu, David B. Jaffe, David Haussler, Toby Bloom, Tara Skelly, S. Yoon, Gil McVean, Carrie Sougnez, Mark A. Batzer, A. De Witte, Ralf Herwig, Jane Wilkinson, Min Hu, K. Pareja, John V. Pearson, Robert E. Handsaker, Jerilyn A. Walker, Fuli Yu, Anthony A. Philippakis, Aniko Sabo, Jonathan Marchini, Ryan D. Hernandez, Guoqing Li, Peter Donnelly, Eric S. Lander, David J. Dooling, Jun Ding, Lukas Habegger, Pilar N. Ossorio, Andreas Dahl, Wilfried Nietfeld, Miriam F. Moffatt, Alexej Abyzov, Sebastian Zöllner, Ekta Khurana, Jean E. McEwen, Robert S. Fulton, Alexey Soldatov, Fiona Hyland, Philippe Lacroute, Richa Agarwala, Paul Flicek, Weichun Huang, Alison J. Coffey, Tony Cox, John W. Wallis, Robert Sanders, David Neil Cooper, Jason P. Affourtit, Mark A. DePristo, D Wheeler, Christopher Celone, Eugene Kulesha, Craig Elder Mealmaker, B. Desany, Zhengdong D. Zhang, Jonathan M. Manning, Cynthia L. Turcotte, Lisa D Brooks, Xiuqing Zhang, C. Coafra, Rajesh Radhakrishnan, Alan J. Schafer, Jonathan Sebat, Ken Chen, Andrew G. Clark, Alexis Christoforides, Edward V. Ball, Mark S. Guyer, Sharon R. Grossman, Philip Rosenstiel, J. Knowlton, Gonçalo R. Abecasis, Min Jian, James O. Burton, S. Wang, Lucinda Murray, George M. Weinstock, Mark Lathrop, Harold Swerdlow, Michael L. Metzker, Xiaowei Zhan, Yeyang Su, Ruibang Luo, Charles Lee, Huanming Yang, P. Marquardt, Charles N. Rotimi, Lynne V. Nazareth, Michael Snyder, Faheem Niazi, Quan Long, Jane Kaye, Michael Strömberg, Adam Auton, Michael Bauer, Cheng-Sheng Lee, S. Gabriel, Jim Stalker, Heather E. Peckham, D. Conners, Raffaella Smith, Yingrui Li, Niall Anthony Gormley, Megan Hanna, Jinchuan Xing, Hugo Y. K. Lam, S. Giles, Evan E. Eichler, Justin Jee, Loukas Moutsianas, Jiang Du, Hyun Min Kang, Eric F. Tsung, Ni Huang, Kai Ye, Stephen F. Schaffner, Suleyman Cenk Sahinalp, Xinghua Shi, Sean Humphray, Ahmet Kurdoglu, Amy L. McGuire, Sandra J. Lee, Linnea Fulton, Francis S. Collins, Huiqing Liang, S. C. Melton, A. Nawrocki, Aaron R. Quinlan, Tatjana Borodina, Lynn B. Jorde, Leopold Parts, Michael D. McLellan, Adrian M. Stütz, Paul Scheet, Amit Indap, Vyacheslav Amstislavskiy, Waibhav Tembe, S. Attiya, Jin Yu, Dmitri Parkhomchuk, Si Quang Le, Fabian Grubert, E. Buglione, Ruiqiang Li, Yan Zhou, Fiona Cunningham, Gilean McVean, Wan-Ping Lee, W. Song, Richard Durbin, Andrew Kernytsky, Stephen M. Beckstrom-Sternberg, Xin Ma, J. Jeng, Lauren Ambrogio, Carol Churcher, Ryan Poplin, William O.C.M. Cookson, Rasko Leinonen, Alexey N. Davydov, Kenny Ye, Paige Anderson, Alexander E. Urban, Adam Felsenfeld, Jeffrey S. Reid, Cornelis A. Albers, Jan O. Korbel, Senduran Balasubramaniam, Elaine R. Mardis, Gozde Aksay, Peter H. Sudmant, Aaron McKenna, M. Labrecque, Amanda J. Price, Vadim Zalunin, Donald F. Conrad, Florian Mertes, Christie Kovar, Danny Challis, A. D. Ball, Petr Danecek, Kiran V. Garimella, Bryan Howie, Scott Kahn, Shuaishuai Tai, E. P. Garrison, Robert D. Bjornson, Shankar Balasubramanian, Fereydoun Hormozdiari, Geng Tian, S. Clark, Joanna L. Kelley, Asif T. Chinwalla, Ramenani Ravi K, Ralf Sudbrak, Mark Kaganovich, Jeffrey C. Barrett, David Rio Deiros, Jeremiah D. Degenhardt, A. Palotie, Alistair Ward, Gianna Costa, Huyen Dinh, M. Minderman, R. Keira Cheetham, Jingxiang Li, Michael A. Quail, P. Koko-Gonzales, Alastair Kent, Martin Shumway, David R. Bentley, Ferran Casals, Leena Peltonen, Klaudia Walter, Christopher Hartl, Erica Shefler, Zhaolei Zhang, Hans Lehrach, Jessica L. Peterson, Roger Winer, Daniel C. Koboldt, D. Riches, Terena James, Wen Fung Leong, Michael Egholm, Thomas W. Blackwell, Peter D. Stenson, Anthony J. Cox, Andrew D. Kern, David M. Carter, M. Tolzmann, Daniel G. MacArthur, Jiantao Wu, Jennifer Stone, Angie S. Hinrichs, M. Albrecht, Jo Knight, Chang-Yun Lin, Adam R. Boyko, Dan Turner, Xiaodong Fang, Youssef Idaghdour, Liming Liang, Ryan N. Gutenkunst, David Craig, Mark J. Daly, Xiaosen Guo, Neda Gharani, Gerton Lunter, Shuli Kang, A. Burke, Shripad Sinari, Yongming A. Sun, Zoya Kingsbury, Robert M. Kuhn, Miriam K. Konkel, T. Li, Kevin McKernan, Simon Gravel, Brian L. Browning, C Sidore, Zamin Iqbal, Matthew Mort, Afidalina Tumian, Michael C. Wendl, Adam Phillips, Bernd Timmermann, Carlos Bustamante, H. Y. Lam, Deniz Kural, Richard A. Gibbs, Bartha Maria Knoppers, Emmanouil T. Dermitzakis, Lon Phan, Richard K. Wilson, D. L. Altshuler, S. Keenen, Assya Abdallah, Eric A. Stone, Michael A. Eberle, Li Ding
المساهمون: Broad Institute of MIT and Harvard
المصدر: Nature, vol 470, iss 7332
Nature
Nature, 470(7332), 59-65
PMCمصطلحات موضوعية: DNA Copy Number Variations, Genotype, Population, Genomic Structural Variation, Genomics, Computational biology, Biology, Genome, Article, DNA sequencing, structural variation segmental duplications short-read rearrangements disorders disease common schizophrenia polymorphism insertions, 03 medical and health sciences, 0302 clinical medicine, Gene Duplication, Insertional, Genetics, Humans, Genetic Predisposition to Disease, Copy-number variation, 1000 Genomes Project, education, Sequence Deletion, 030304 developmental biology, 0303 health sciences, education.field_of_study, Multidisciplinary, Genome, Human, Reproducibility of Results, Sequence Analysis, DNA, DNA, Mutagenesis, Insertional, Genetics, Population, Mutagenesis, Human genome, Sequence Analysis, 030217 neurology & neurosurgery, Human
وصف الملف: application/pdf
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المؤلفون: Adi F. Gazdar, Clarence Lee, Michael D. Rhodes, Sarah Edkins, P. Andrew Futreal, Gonzalo R. Ordóñez, Helen Davies, David J. McBride, Mingming Jia, Lucy Stebbings, Peter J. Campbell, King Wai Lau, Meng-Lay Lin, John D. Minna, Christopher Greenman, Yongming A. Sun, Ignacio Varela, Michael R. Stratton, Alison M. Meynert, Adam Butler, Stephen F. McLaughlin, Calli Latimer, Ewan Birney, Lina Chen, Jon W. Teague, Gina Costa, Erin Pleasance, Heather E. Peckham, Philip J. Stephens, Laura Mudie, Andrew Menzies, Kevin McKernan, Jonathon Mangion, Eric F. Tsung, David Beare, John Marshall, Catherine Leroy, David T. Jones, Serena Nik-Zainal, Sarah O’Meara
المصدر: Nature
مصطلحات موضوعية: Genetics, 0303 health sciences, Mutation, Multidisciplinary, Massive parallel sequencing, DNA repair, Cancer, Biology, medicine.disease, medicine.disease_cause, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, 030220 oncology & carcinogenesis, DNA Mutational Analysis, medicine, Human genome, Tandem exon duplication, 030304 developmental biology
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المؤلفون: Stephen F. McLaughlin, Martin G. Reese, Gina Costa, Francisco M. De La Vega, Cynthia L. Hendrickson, Can Alkan, Joel A. Malek, Tanya Sokolsky, Andrew MacBride, Alena A. Antipova, Kathleen C. Hayashibara, Zheng Zhang, Jonathan M. Manning, Alan Blanchard, Swati Ranade, Haoning Fu, Kevin McKernan, Adam Sannicandro, Damon S. Perez, Vineet Bafna, Jeremy R. Stuart, Michael P. Moore, Robert E. Beaudoin, Rajesh Gottimukkala, Yutao Fu, Lei Zhang, Eric F. Tsung, Andrew Sheridan, Cisyla Duncan, Ali Bashir, Fiona Hyland, Jeffrey M. Kidd, Jeffrey K. Ichikawa, Michael W. Laptewicz, Michael D. Rhodes, Brittany E. Coleman, Michael R. Lyons, Eileen T. Dimalanta, Clarence Lee, Shan Yang, Bin Li, Evan E. Eichler, Heather E. Peckham, Christopher Clouser, Lev Kotler
المصدر: Genome research. 19(9)
مصطلحات موضوعية: Nonsynonymous substitution, Heterozygote, Genotype, Genomics, Biology, Genome, Polymorphism, Single Nucleotide, DNA sequencing, Deep sequencing, Structural variation, Ligases, Genetics, Methods, Humans, Base Pairing, Genetics (clinical), Base Sequence, Genome, Human, Homozygote, Computational Biology, Genetic Variation, Sequence Analysis, DNA, Reference Standards, Africa, Human genome, Reference genome
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المؤلفون: Jarret Glasscock, Richard K. Wilson, Weichun Huang, Michael Strömberg, Paul Fox, Sacha N. Sander, Tim Schedl, Todd Wylie, Ryan Richt, Eric F. Tsung, Derek Barnett, LaDeana W. Hillier, Ginger A. Fewell, Donald A. Stewart, David J. Dooling, Gabor T. Marth, Aaron R. Quinlan, Matthew T. Hickenbotham, Elaine R. Mardis, Vincent Magrini
المصدر: Nature methods. 5(2)
مصطلحات موضوعية: Whole genome sequencing, Genetics, Massive parallel sequencing, Base Sequence, DNA Mutational Analysis, Molecular Sequence Data, Sequence assembly, Chromosome Mapping, Genetic Variation, Hybrid genome assembly, Cell Biology, Sequence Analysis, DNA, Biology, Biochemistry, Genome, Polymorphism, Single Nucleotide, Deep sequencing, DNA sequencing, Animals, Caenorhabditis elegans, Molecular Biology, Biotechnology, Reference genome
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المؤلفون: Toyoaki Tenzen, Qing Zhao, Michael E. Greenberg, Leping Cheng, Hui Fu, Annette Ferrari, Ping Luo, M. Todd Valerius, Haesun A. Kim, Eric F. Tsung, Charles D. Stiles, Zhaohui Cai, Qiufu Ma, David H. Rowitch, Dong-in Yuk, Yang Liu, Nathan Billings, John A. Alberta, Jing Yu, Jan M. Stenman, Andrew P. McMahon, Paul A. Gray
المصدر: Science (New York, N.Y.). 306(5705)
مصطلحات موضوعية: Databases, Factual, genetic processes, Central nervous system, Hypothalamus, Neocortex, In situ hybridization, Computational biology, Biology, Genome, Polymerase Chain Reaction, Mice, Thalamus, Mesencephalon, Gene expression, medicine, Animals, natural sciences, Cloning, Molecular, Gene, Transcription factor, In Situ Hybridization, DNA Primers, Brain organization, Multidisciplinary, Gene Expression Profiling, fungi, Brain atlas, Brain, Corpus Striatum, Rhombencephalon, medicine.anatomical_structure, Animals, Newborn, Spinal Cord, Transcription Factors
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المؤلفون: Robert D. Tilton, Eric F. Tsung
المصدر: Journal of colloid and interface science. 213(1)
مصطلحات موضوعية: Total internal reflection fluorescence microscope, Chemistry, Stereochemistry, Analytical chemistry, Binding constant, Surfaces, Coatings and Films, Electronic, Optical and Magnetic Materials, Biomaterials, Reaction rate, Chemical kinetics, Colloid and Surface Chemistry, Reaction rate constant, Reagent, Monolayer, Enzyme kinetics