المؤلفون: Pugh, Trevor J, Weeraratne, Shyamal Dilhan, Archer, Tenley C, Pomeranz Krummel, Daniel A, Auclair, Daniel, Bochicchio, James, Carneiro, Mauricio O, Carter, Scott L, Cibulskis, Kristian, Erlich, Rachel L, Greulich, Heidi, Lawrence, Michael S, Lennon, Niall J, McKenna, Aaron, Meldrim, James, Ramos, Alex H, Ross, Michael G, Russ, Carsten, Shefler, Erica, Sivachenko, Andrey, Sogoloff, Brian, Stojanov, Petar, Tamayo, Pablo, Mesirov, Jill P, Amani, Vladimir, Teider, Natalia, Sengupta, Soma, Francois, Jessica Pierre, Northcott, Paul A, Taylor, Michael D, Yu, Furong, Crabtree, Gerald R, Kautzman, Amanda G, Gabriel, Stacey B, Getz, Gad, Jäger, Natalie, Jones, David TW, Lichter, Peter, Pfister, Stefan M, Roberts, Thomas M, Meyerson, Matthew, Pomeroy, Scott L, Cho, Yoon-Jae

المصدر: Nature. 488(7409)

مصطلحات موضوعية: Humans, Medulloblastoma, Cerebellar Neoplasms, DNA Helicases, Histone-Lysine N-Methyltransferase, Intracellular Signaling Peptides and Proteins, DNA-Binding Proteins, Receptors, Cell Surface, Neoplasm Proteins, Proto-Oncogene Proteins, Nuclear Proteins, Transcription Factors, Repressor Proteins, Signal Transduction, Protein Structure, Tertiary, Mutation, Genome, Human, Models, Molecular, Child, Tumor Suppressor Protein p53, Wnt Proteins, beta Catenin, TCF Transcription Factors, Hedgehog Proteins, DEAD-box RNA Helicases, Promoter Regions, Genetic, LIM Domain Proteins, Exome, Patched Receptors, Patched-1 Receptor, Histone Methyltransferases, Brain Disorders, Pediatric Cancer, Cancer, Human Genome, Biotechnology, Pediatric, Brain Cancer, Rare Diseases, Genetics, Neurosciences, Genetic Testing, Aetiology, 2.1 Biological and endogenous factors, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5061g1cq

المؤلفون: Stransky, Nicolas, Egloff, Ann Marie, Tward, Aaron D., Kostic, Aleksandar D., Cibulskis, Kristian, Sivachenko, Andrey, Kryukov, Gregory V., Lawrence, Michael S., Sougnez, Carrie, McKenna, Aaron, Shefler, Erica, Ramos, Alex H., Stojanov, Petar, Carter, Scott L., Voet, Douglas, Cortés, Maria L., Auclair, Daniel, Berger, Michael F., Saksena, Gordon, Guiducci, Candace, Onofrio, Robert C., Parkin, Melissa, Romkes, Marjorie, Weissfeld, Joel L., Seethala, Raja R., Wang, Lin, Rangel-Escareño, Claudia, Fernandez-Lopez, Juan Carlos, Hidalgo-Miranda, Alfredo, Melendez-Zajgla, Jorge, Winckler, Wendy, Ardlie, Kristin, Gabriel, Stacey B., Meyerson, Matthew, Lander, Eric S., Getz, Gad, Golub, Todd R., Garraway, Levi A., Grandis, Jennifer R.

المصدر: Science, 2011 Aug . 333(6046), 1157-1160.

URL الوصول: http://dx.doi.org/10.1126/science.1208130

المؤلفون: Wang, Lili, Lawrence, Michael S., Wan, Youzhong, Stojanov, Petar, Sougnez, Carrie, Stevenson, Kristen, Werner, Lillian, Sivachenko, Andrey, DeLuca, David S., Zhang, Li, Zhang, Wandi, Vartanov, Alexander R., Fernandes, Stacey M., Goldstein, Natalie R., Folco, Eric G., Cibulskis, Kristian, Tesar, Bethany, Sievers, Quinlan L., Shefler, Erica, Gabriel, Stacey B., Hacohen, Nir, Reed, Robin, Meyerson, Matthew L., Golub, Todd R., Lander, Eric S., Neuberg, Donna S., Brown, Jennifer R., Getz, Gad, Wu, Catherine J.

المساهمون: Massachusetts Institute of Technology. Department of Biology, Lander, Eric S.

المصدر: PMC

مصطلحات موضوعية: Adult, Spliceosome, RNA Splicing, Chronic lymphocytic leukemia, Mutation, Missense, Biology, medicine.disease_cause, medicine, Humans, Exome, Gene, Gene Library, Mutation, Chromosomes, Human, Pair 11, High-Throughput Nucleotide Sequencing, Cancer, DNA, Neoplasm, General Medicine, medicine.disease, Leukemia, Lymphocytic, Chronic, B-Cell, Leukemia, RNA splicing, Immunology, Spliceosomes, Cancer research, Chromosome Deletion, DDX3X

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7165e43e1ef35c6812119264afdc3e9
http://hdl.handle.net/1721.1/84659

المؤلفون: Durbin, Richard M., Altshuler, David L., Abecasis, Gonçalo R., Bentley, David R., Chakravarti, Aravinda, Clark, Andrew G., Collins, Francis S., De La Vega, Francisco M., Donnelly, Peter, Egholm, Michael, Flicek, Paul, Gabriel, Stacey B., Gibbs, Richard A., Knoppers, Bartha M., Lander, Eric S., Lehrach, Hans, Mardis, Elaine R., McVean, Gil A., Nickerson, Debbie A., Peltonen, Leena, Schafer, Alan J., Sherry, Stephen T., Wang, Jun, Wilson, Richard K., Deiros, David, Metzker, Mike, Muzny, Donna, Reid, Jeff, Wheeler, David, Li, Jingxiang, Jian, Min, Li, Guoqing, Li, Ruiqiang, Liang, Huiqing, Tian, Geng, Wang, Bo, Wang, Jian, Wang, Wei, Yang, Huanming, Zhang, Xiuqing, Zheng, Huisong, Ambrogio, Lauren, Bloom, Toby, Cibulskis, Kristian, Fennell, Tim J., Jaffe, David B., Shefler, Erica, Sougnez, Carrie L., Gormley, Niall, Humphray, Sean, Kingsbury, Zoya, Koko-Gonzales, Paula, Stone, Jennifer, McKernan, Kevin J., Costa, Gina L., Ichikawa, Jeffry K., Lee, Clarence C., Sudbrak, Ralf, Borodina, Tatiana A., Dahl, Andreas, Davydov, Alexey N., Marquardt, Peter, Mertes, Florian, Nietfeld, Wilfiried, Rosenstiel, Philip, Schreiber, Stefan, Soldatov, Aleksey V., Timmermann, Bernd, Tolzmann, Marius, Affourtit, Jason, Ashworth, Dana, Attiya, Said, Bachorski, Melissa, Buglione, Eli, Burke, Adam, Caprio, Amanda, Celone, Christopher, Clark, Shauna, Conners, David, Desany, Brian, Gu, Lisa, Guccione, Lorri, Kao, Kalvin, Kebbel, Andrew, Knowlton, Jennifer, Labrecque, Matthew, McDade, Louise, Mealmaker, Craig, Minderman, Melissa, Nawrocki, Anne, Niazi, Faheem, Pareja, Kristen, Ramenani, Ravi, Riches, David, Song, Wanmin, Turcotte, Cynthia, Wang, Shally, Dooling, David, Fulton, Lucinda, Fulton, Robert, Weinstock, George, Burton, John, Carter, David M., Churcher, Carol, Coffey, Alison, Cox, Anthony, Palotie, Aarno, Quail, Michael, Skelly, Tom, Stalker, James, Swerdlow, Harold P., Turner, Daniel, De Witte, Anniek, Giles, Shane, Bainbridge, Matthew, Challis, Danny, Sabo, Aniko, Yu, Fuli, Yu, Jin, Fang, Xiaodong, Guo, Xiaosen, Li, Yingrui, Luo, Ruibang, Tai, Shuaishuai, Wu, Honglong, Zheng, Hancheng, Zheng, Xiaole, Zhou, Yan, Marth, Gabor T., Garrison, Erik P., Huang, Weichun, Indap, Amit, Kural, Deniz, Lee, Wan-Ping, Fung Leong, Wen, Quinlan, Aaron R., Stewart, Chip, Stromberg, Michael P., Ward, Alistair N., Wu, Jiantao, Lee, Charles, Mills, Ryan E., Shi, Xinghua, Daly, Mark J., DePristo, Mark A., Ball, Aaron D., Banks, Eric, Browning, Brian L., Garimella, Kiran V., Grossman, Sharon R., Handsaker, Robert E., Hanna, Matt, Hartl, Chris, Kernytsky, Andrew M., Korn, Joshua M., Li, Heng, Maguire, Jared R., McCarroll, Steven A., McKenna, Aaron, Nemesh, James C., Philippakis, Anthony A., Poplin, Ryan E., Price, Alkes, Rivas, Manuel A., Sabeti, Pardis C., Schaffner, Stephen F., Shlyakhter, Ilya A., Cooper, David N., Ball, Edward V., Mort, Matthew, Phillips, Andrew D., Stenson, Peter D., Sebat, Jonathan, Makarov, Vladimir, Ye, Kenny, Yoon, Seungtai C., Bustamante, Carlos D., Boyko, Adam, Degenhardt, Jeremiah, Gravel, Simon, Gutenkunst, Ryan N., Kaganovich, Mark, Keinan, Alon, Lacroute, Phil, Ma, Xin, Reynolds, Andy, Clarke, Laura, Cunningham, Fiona, Herrero, Javier, Keenen, Stephen, Kulesha, Eugene, Leinonen, Rasko, McLaren, William M., Radhakrishnan, Rajesh, Smith, Richard E., Zalunin, Vadim, Zheng-Bradley, Xiangqun, Korbel, Jan O., Stütz, Adrian M., Bauer, Markus, Keira Cheetham, R., Cox, Tony, Eberle, Michael, James, Terena, Kahn, Scott, Murray, Lisa, Ye, Kai, Fu, Yutao, Hyland, Fiona C. L., Manning, Jonathan M., McLaughlin, Stephen F., Peckham, Heather E., Sakarya, Onur, Sun, Yongming A., Tsung, Eric F., Batzer, Mark A., Konkel, Miriam K., Walker, Jerilyn A., Albrecht, Marcus W., Amstislavskiy, Vyacheslav S., Herwig, Ralf, Parkhomchuk, Dimitri V., Agarwala, Richa, Khouri, Hoda M., Morgulis, Aleksandr O., Paschall, Justin E., Phan, Lon D., Rotmistrovsky, Kirill E., Sanders, Robert D., Shumway, Martin F., Xiao, Chunlin, Auton, Adam, Iqbal, Zamin, Lunter, Gerton, Marchini, Jonathan L., Moutsianas, Loukas, Myers, Simon, Tumian, Afidalina, Knight, James, Winer, Roger, Craig, David W., Beckstrom-Sternberg, Steve M., Christoforides, Alexis, Kurdoglu, Ahmet A., Pearson, John V., Sinari, Shripad A., Tembe, Waibhav D., Haussler, David, Hinrichs, Angie S., Katzman, Sol J., Kern, Andrew, Kuhn, Robert M., Przeworski, Molly, Hernandez, Ryan D., Howie, Bryan, Kelley, Joanna L., Cord Melton, S., Li, Yun, Anderson, Paul, Blackwell, Tom, Chen, Wei, Cookson, William O., Ding, Jun, Min Kang, Hyun, Lathrop, Mark, Liang, Liming, Moffatt, Miriam F., Scheet, Paul, Sidore, Carlo, Snyder, Matthew, Zhan, Xiaowei, Zöllner, Sebastian, Awadalla, Philip, Casals, Ferran, Idaghdour, Youssef, Keebler, John, Stone, Eric A., Zilversmit, Martine, Jorde, Lynn, Xing, Jinchuan, Eichler, Evan E., Aksay, Gozde, Alkan, Can, Hajirasouliha, Iman, Hormozdiari, Fereydoun, Kidd, Jeffrey M., Cenk Sahinalp, S., Sudmant, Peter H., Chen, Ken, Chinwalla, Asif, Ding, Li, Koboldt, Daniel C., McLellan, Mike D., Wallis, John W., Wendl, Michael C., Zhang, Qunyuan, Albers, Cornelis A., Ayub, Qasim, Balasubramaniam, Senduran, Barrett, Jeffrey C., Chen, Yuan, Conrad, Donald F., Danecek, Petr, Dermitzakis, Emmanouil T., Hu, Min, Huang, Ni, Hurles, Matt E., Jin, Hanjun, Jostins, Luke, Keane, Thomas M., Quang Le, Si, Lindsay, Sarah, Long, Quan, MacArthur, Daniel G., Montgomery, Stephen B., Parts, Leopold, Tyler-Smith, Chris, Walter, Klaudia, Zhang, Yujun, Gerstein, Mark B., Snyder, Michael, Abyzov, Alexej, Balasubramanian, Suganthi, Bjornson, Robert, Du, Jiang, Grubert, Fabian, Habegger, Lukas, Haraksingh, Rajini, Jee, Justin, Khurana, Ekta, Lam, Hugo Y. K., Leng, Jing, Jasmine Mu, Xinmeng, Urban, Alexander E., Zhang, Zhengdong, Coafra, Cristian, Dinh, Huyen, Kovar, Christie, Lee, Sandy, Nazareth, Lynne, Wilkinson, Jane, Coffey, Allison, Scott, Carol, Gharani, Neda, Kaye, Jane S., Kent, Alastair, Li, Taosha, McGuire, Amy L., Ossorio, Pilar N., Rotimi, Charles N., Su, Yeyang, Toji, Lorraine H., Brooks, Lisa D., Felsenfeld, Adam L., McEwen, Jean E., Abdallah, Assya, Juenger, Christopher R., Clemm, Nicholas C., Duncanson, Audrey, Green, Eric D., Guyer, Mark S., Peterson, Jane L.

المساهمون: The Wellcome Trust Sanger Institute [Cambridge], Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), University of Michigan [Ann Arbor], University of Michigan System, The 1000 Genomes Project Consortium, Harvard University--MIT Division of Health Sciences and Technology, Massachusetts Institute of Technology. Department of Biology, Lander, Eric S., Altshuler, David, Daly, Mark J., Grossman, Sharon Rachel, Jaffe, David B., Korn, Joshua M., Dermitzakis, Emmanouil

المصدر: Nature
Nature, 2010, 467 (7319), pp.1061-1073. ⟨10.1038/nature09534⟩
Nature; Vol 467
PMC
ResearcherID
Nature, 467(7319), 1061-1073
Durbin, R M, Altshuler, D, Abecasis, G R, Bentley, D R, Chakravarti, A, Clark, A G, Collins, F S, de la Vega, F M, Donnelly, P, Egholm, M, Flicek, P, Gabriel, S B, Gibbs, R A, Knoppers, B M, Lander, E S, Lehrach, H, Mardis, E R, McVean, G A, Nickerson, D A, Peltonen, L, Schafer, A J, Sherry, S T, Wang, J, Wilson, R K, Li, R & The 1000 Genomes Project Consortium 2010, ' A map of human genome variation from population-scale sequencing ', Nature, vol. 467, no. 7319, pp. 1061–1073 . https://doi.org/10.1038/nature09534
Nature, Vol. 467, No 7319 (2010) pp. 1061-73

مصطلحات موضوعية: Male, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, Pilot Projects, Chromosomes, Human, Y/genetics, DNA, Mitochondrial/genetics, 0302 clinical medicine, ddc:576.5, 2. Zero hunger, Genetics, Recombination, Genetic, 0303 health sciences, Multidisciplinary, Genetics, Population/methods, Genomics, Polymorphism, Single Nucleotide/genetics, Recombination, Genetic/genetics, 3. Good health, Genetic Variation/genetics, Sequence Analysis, DNA/methods, Calibration, Female, Mutation/genetics, Genotype, Haplotypes/genetics, Biology, Instability, DNA, Mitochondrial, Polymorphism, Single Nucleotide, Article, Selection, Genetic/genetics, Factor (chord), Evolution, Molecular, 03 medical and health sciences, Table (landform), Humans, Selection, Genetic, Genetic Association Studies, 030304 developmental biology, Genotype imputation, Chromosomes, Human, Y, Genome, Human, Computational Biology, Genetic Variation, Sequence Analysis, DNA, Genomics/methods, Genetics, Population, Haplotypes, Sample Size, wide association gene-expression recombination hotspots meiotic recombination genotype imputation rare variants haplotype map nucleotide diseases common, Mutation, Genome, Human/genetics, Trinucleotide repeat expansion, Sequence Alignment, 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c837f74b531086923604e4fb1c1bab8
https://cea.hal.science/cea-00904997

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