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Material Type: Artigo
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The mutational constraint spectrum quantified from variation in 141,456 humansKarczewski, Konrad J ; Francioli, Laurent C ; Tiao, Grace ; Cummings, Beryl B ; Alföldi, Jessica ; Wang, Qingbo ; Collins, Ryan L ; Laricchia, Kristen M ; Ganna, Andrea ; Birnbaum, Daniel P ; Gauthier, Laura D ; Brand, Harrison ; Solomonson, Matthew ; Watts, Nicholas A ; Rhodes, Daniel ; Singer-Berk, Moriel ; England, Eleina M ; Seaby, Eleanor G ; Kosmicki, Jack A ; Walters, Raymond K ; Tashman, Katherine ; Farjoun, Yossi ; Banks, Eric ; Poterba, Timothy ; Wang, Arcturus ; Seed, Cotton ; Whiffin, Nicola ; Chong, Jessica X ; Samocha, Kaitlin E ; Pierce-Hoffman, Emma ; Zappala, Zachary ; O'Donnell-Luria, Anne H ; Minikel, Eric Vallabh ; Weisburd, Ben ; Lek, Monkol ; Ware, James S ; Vittal, Christopher ; Armean, Irina M ; Bergelson, Louis ; Cibulskis, Kristian ; Connolly, Kristen M ; Covarrubias, Miguel ; Donnelly, Stacey ; Ferriera, Steven ; Gabriel, Stacey ; Gentry, Jeff ; Gupta, Namrata ; Jeandet, Thibault ; Kaplan, Diane ; Llanwarne, Christopher ; Munshi, Ruchi ; Novod, Sam ; Petrillo, Nikelle ; Roazen, David ; Ruano-Rubio, Valentin ; Saltzman, Andrea ; Schleicher, Molly ; Soto, Jose ; Tibbetts, Kathleen ; Tolonen, Charlotte ; Wade, Gordon ; Talkowski, Michael E ; Neale, Benjamin M ; Daly, Mark J ; MacArthur, Daniel GNature (London), 2020-05, Vol.581 (7809), p.434-443 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The repertoire of mutational signatures in human cancerAlexandrov, Ludmil B ; Kim, Jaegil ; Haradhvala, Nicholas J ; Huang, Mi Ni ; Tian Ng, Alvin Wei ; Wu, Yang ; Boot, Arnoud ; Covington, Kyle R ; Gordenin, Dmitry A ; Bergstrom, Erik N ; Islam, S M Ashiqul ; Lopez-Bigas, Nuria ; Klimczak, Leszek J ; McPherson, John R ; Morganella, Sandro ; Sabarinathan, Radhakrishnan ; Wheeler, David A ; Mustonen, Ville ; Getz, Gad ; Rozen, Steven G ; Stratton, Michael RNature (London), 2020-02, Vol.578 (7793), p.94-101 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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A structural variation reference for medical and population geneticsCollins, Ryan L ; Brand, Harrison ; Karczewski, Konrad J ; Zhao, Xuefang ; Alföldi, Jessica ; Francioli, Laurent C ; Khera, Amit V ; Lowther, Chelsea ; Gauthier, Laura D ; Wang, Harold ; Watts, Nicholas A ; Solomonson, Matthew ; O'Donnell-Luria, Anne ; Baumann, Alexander ; Munshi, Ruchi ; Walker, Mark ; Whelan, Christopher W ; Huang, Yongqing ; Brookings, Ted ; Sharpe, Ted ; Stone, Matthew R ; Valkanas, Elise ; Fu, Jack ; Tiao, Grace ; Laricchia, Kristen M ; Ruano-Rubio, Valentin ; Stevens, Christine ; Gupta, Namrata ; Cusick, Caroline ; Margolin, Lauren ; Taylor, Kent D ; Lin, Henry J ; Rich, Stephen S ; Post, Wendy S ; Chen, Yii-Der Ida ; Rotter, Jerome I ; Nusbaum, Chad ; Philippakis, Anthony ; Lander, Eric ; Gabriel, Stacey ; Neale, Benjamin M ; Kathiresan, Sekar ; Daly, Mark J ; Banks, Eric ; MacArthur, Daniel G ; Talkowski, Michael ENature (London), 2020-05, Vol.581 (7809), p.444-451 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The evolutionary history of 2,658 cancersGerstung, Moritz ; Jolly, Clemency ; Leshchiner, Ignaty ; Dentro, Stefan C ; Gonzalez, Santiago ; Rosebrock, Daniel ; Mitchell, Thomas J ; Rubanova, Yulia ; Anur, Pavana ; Yu, Kaixian ; Tarabichi, Maxime ; Deshwar, Amit ; Wintersinger, Jeff ; Kleinheinz, Kortine ; Vázquez-García, Ignacio ; Haase, Kerstin ; Jerman, Lara ; Sengupta, Subhajit ; Macintyre, Geoff ; Malikic, Salem ; Donmez, Nilgun ; Livitz, Dimitri G ; Cmero, Marek ; Demeulemeester, Jonas ; Schumacher, Steven ; Fan, Yu ; Yao, Xiaotong ; Lee, Juhee ; Schlesner, Matthias ; Boutros, Paul C ; Bowtell, David D ; Zhu, Hongtu ; Getz, Gad ; Imielinski, Marcin ; Beroukhim, Rameen ; Sahinalp, S Cenk ; Ji, Yuan ; Peifer, Martin ; Markowetz, Florian ; Mustonen, Ville ; Yuan, Ke ; Wang, Wenyi ; Morris, Quaid D ; Spellman, Paul T ; Wedge, David C ; Van Loo, PeterNature (London), 2020-02, Vol.578 (7793), p.122-128 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Patterns of somatic structural variation in human cancer genomesLi, Yilong ; Roberts, Nicola D ; Wala, Jeremiah A ; Shapira, Ofer ; Schumacher, Steven E ; Kumar, Kiran ; Khurana, Ekta ; Waszak, Sebastian ; Korbel, Jan O ; Haber, James E ; Imielinski, Marcin ; Weischenfeldt, Joachim ; Beroukhim, Rameen ; Campbell, Peter JNature (London), 2020-02, Vol.578 (7793), p.112-121 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Pan-cancer analysis of whole genomesCampbell, Peter J ; Getz, Gad ; Korbel, Jan O ; Stuart, Joshua M ; Jennings, Jennifer L ; Stein, Lincoln D ; Perry, Marc DNature (London), 2020-02, Vol.578 (7793), p.82-93 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencingCortés-Ciriano, Isidro ; Lee, Jake June-Koo ; Xi, Ruibin ; Jain, Dhawal ; Jung, Youngsook L ; Yang, Lixing ; Gordenin, Dmitry ; Klimczak, Leszek J ; Zhang, Cheng-Zhong ; Pellman, David S ; Park, Peter JNature genetics, 2020-03, Vol.52 (3), p.331-341 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Analyses of non-coding somatic drivers in 2,658 cancer whole genomesRheinbay, Esther ; Nielsen, Morten Muhlig ; Abascal, Federico ; Wala, Jeremiah A ; Shapira, Ofer ; Tiao, Grace ; Hornshøj, Henrik ; Hess, Julian M ; Juul, Randi Istrup ; Lin, Ziao ; Feuerbach, Lars ; Sabarinathan, Radhakrishnan ; Madsen, Tobias ; Kim, Jaegil ; Mularoni, Loris ; Shuai, Shimin ; Lanzós, Andrés ; Herrmann, Carl ; Maruvka, Yosef E ; Shen, Ciyue ; Amin, Samirkumar B ; Bandopadhayay, Pratiti ; Bertl, Johanna ; Boroevich, Keith A ; Busanovich, John ; Carlevaro-Fita, Joana ; Chakravarty, Dimple ; Chan, Calvin Wing Yiu ; Craft, David ; Dhingra, Priyanka ; Diamanti, Klev ; Fonseca, Nuno A ; Gonzalez-Perez, Abel ; Guo, Qianyun ; Hamilton, Mark P ; Haradhvala, Nicholas J ; Hong, Chen ; Isaev, Keren ; Johnson, Todd A ; Juul, Malene ; Kahles, Andre ; Kahraman, Abdullah ; Kim, Youngwook ; Komorowski, Jan ; Kumar, Kiran ; Kumar, Sushant ; Lee, Donghoon ; Lehmann, Kjong-Van ; Li, Yilong ; Liu, Eric Minwei ; Lochovsky, Lucas ; Park, Keunchil ; Pich, Oriol ; Roberts, Nicola D ; Saksena, Gordon ; Schumacher, Steven E ; Sidiropoulos, Nikos ; Sieverling, Lina ; Sinnott-Armstrong, Nasa ; Stewart, Chip ; Tamborero, David ; Tubio, Jose M C ; Umer, Husen M ; Uusküla-Reimand, Liis ; Wadelius, Claes ; Wadi, Lina ; Yao, Xiaotong ; Zhang, Cheng-Zhong ; Zhang, Jing ; Haber, James E ; Hobolth, Asger ; Imielinski, Marcin ; Kellis, Manolis ; Lawrence, Michael S ; von Mering, Christian ; Nakagawa, Hidewaki ; Raphael, Benjamin J ; Rubin, Mark A ; Sander, Chris ; Stein, Lincoln D ; Stuart, Joshua M ; Tsunoda, Tatsuhiko ; Wheeler, David A ; Johnson, Rory ; Reimand, Jüri ; Gerstein, Mark ; Khurana, Ekta ; Campbell, Peter J ; López-Bigas, Núria ; Weischenfeldt, Joachim ; Beroukhim, Rameen ; Martincorena, Iñigo ; Pedersen, Jakob Skou ; Getz, GadNature (London), 2020-02, Vol.578 (7793), p.102-111 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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A primer on deep learning in genomicsZou, James ; Huss, Mikael ; Abid, Abubakar ; Mohammadi, Pejman ; Torkamani, Ali ; Telenti, AmalioNature genetics, 2019-01, Vol.51 (1), p.12-18 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Multi-ethnic genome-wide association study for atrial fibrillationRoselli, Carolina ; Chaffin, Mark D ; Aeschbacher, Stefanie ; Albert, Christine M ; Aragam, Krishna G ; Barnard, John ; Benjamin, Emelia J ; Bloom, Heather L ; Calkins, Hugh ; Campbell, Archie ; Chasman, Daniel I ; Chen, Lin Y ; Chen, Yii-Der Ida ; Choi, Eue-Keun ; Choi, Seung Hoan ; Christophersen, Ingrid E ; Chung, Mina K ; Cook, James ; Denny, Joshua C ; Esa, Nada ; Esko, Tonu ; Felix, Stephan B ; Gudnason, Vilmundur ; Guo, Xiuqing ; Gustafsson, Stefan ; Gutmann, Rebecca ; Hamsten, Anders ; Harris, Tamara B ; Hofman, Albert ; Horimoto, Andrea R V R ; Huang, Jie ; Huang, Paul L ; Ito, Kaoru ; Johnson, Renee ; Kääb, Stefan ; Kathiresan, Sekar ; Kietselaer, Bas L ; Kleber, Marcus E ; Krieger, Jose E ; Lehtimäki, Terho ; Lim, Hong Euy ; Lin, Honghuang ; Lind, Lars ; Lu, Yingchang ; Magnusson, Patrik K ; Mahajan, Anubha ; Malik, Rainer ; Mansur, Alfredo J ; Marcus, Gregory M ; McManus, David D ; Mohanty, Sanghamitra ; Montgomery, Jay A ; Morley, Michael P ; Morris, Andrew P ; Natale, Andrea ; Neumann, Benjamin ; Nilsson, Peter ; Noordam, Raymond ; Olesen, Morten S ; Orho-Melander, Marju ; Padmanabhan, Sandosh ; Pak, Hui-Nam ; Pera, Joanna ; Porteous, David ; Psaty, Bruce M ; Pullinger, Clive R ; Rader, Daniel J ; Ridker, Paul M ; Rienstra, Michiel ; Risch, Lorenz ; Rosenberg, Michael A ; Rotter, Jerome I ; Sandhu, Roopinder K ; Schnabel, Renate B ; Shah, Svati ; Shim, Jaemin ; Shoemaker, M Benjamin ; Smith, Nicholas L ; Soliman, Elsayed Z ; Stricker, Bruno H ; Sun, Han ; Svendsen, Jesper H ; Tanaka, Toshihiro ; Taylor, Kent D ; Teder-Laving, Maris ; Teumer, Alexander ; Thériault, Sébastien ; Tveit, Arnljot ; Uitterlinden, Andre G ; Van Der Harst, Pim ; Van Gelder, Isabelle C ; Van Wagoner, David R ; Wang, Biqi ; Weeke, Peter E ; Weiss, Raul ; Weiss, Stefan ; Wells, Quinn S ; Wong, Jorge A ; Zeller, Tanja ; Ellinor, Patrick TNature genetics, 2018-09, Vol.50 (9), p.1225-1233 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |