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Record W3004859565 · doi:10.1038/s41586-020-1965-x

Analyses of non-coding somatic drivers in 2,658 cancer whole genomes

2020· article· en· W3004859565 on OpenAlexaff
Esther Rheinbay, Morten Muhlig Nielsen, Federico Abascal, Ofer Shapira, Grace Tiao, Henrik Hornshøj, Julian M. Hess, Lars Feuerbach, Radhakrishnan Sabarinathan, Tobias Madsen, Loris Mularoni, Shimin Shuai, Carl Herrmann, Yosef E. Maruvka, Ciyue Shen, Samirkumar B. Amin, Pratiti Bandopadhayay, Johanna Bertl, Joana Carlevaro-Fita, Dimple Chakravarty, David Craft, Priyanka Dhingra, Abel González-Pérez, Hong Chen, Keren Isaev, Malene Juul, André Kahles, Abdullah Kahraman, Young-Wook Kim, Jan Komorowski, Donghoon Lee, Yilong Li, Eric Minwei Liu, Lucas Lochovsky, Oriol Pich, Nicola D. Roberts, Gordon Saksena, Steven E. Schumacher, Nikos Sidiropoulos, Lina Sieverling, Nasa Sinnott-Armstrong, Chip Stewart, José M. C. Tubío, Claes Wadelius, Lina Wadi, Cheng‐Zhong Zhang, Jing Zhang, James E. Haber, Asger Hobolth, Marcin Imieliński, Manolis Kellis, Michael S. Lawrence, Christian von Mering, Hidewaki Nakagawa, Lincoln D. Stein, Joshua M. Stuart, Tatsuhiko Tsunoda, David A. Wheeler, Jüri Reimand, Ekta Khurana, Peter J. Campbell, Núria López-Bigas, Jonathan Barenboim, Rameen Beroukhim, Søren Brunak, Joan Frigola, Carlo Gambacorti‐Passerini, Mark Gerstein, Qianyun Guo, Marta Gut, Arif O. Harmanci, Mohamed Helmy, Ermin Hodzic, Hong Chen, José M. G. Izarzugaza, Randi Istrup Juul, Manolis Kellis, Jong-Kwang Kim, Jan O. Korbel, Sushant Kumar, Shantao Li, Xiaotong Li, Ziao Lin, Shaoke Lou, Kathleen Marchal, Alexander Martinez‐Fundichely, Patrick D. McGillivray, William Meyerson, Ferran Muiños, Kiejung Park, Jakob Skou Pedersen, Tirso Pons, Iker Reyes-Salazar, Matthew A. Reyna, Mark A. Rubin, S. Cenk Sahinalp, Leonidas Salichos, Chris Sander, David Tamborero, Liis Uusküla-Reimand, Alfonso Valencia, Miguel Vazquez, Jiayin Wang, Sebastian M. Waszak, Guanming Wu, Jun Yu, Xuanping Zhang, Yan Zhang, Zhongming Zhao, Kadir C. Akdemir, Eva G. Álvarez, Adrian Baez‐Ortega, David D.L. Bowtell, Benedikt Brors, Kathleen H. Burns, Peter J. Campbell, Kin Chan, Isidro Cortés‐Ciriano, Andrew Dunford, Xavier Estivill, Dariush Etemadmoghadam, Milana Frenkel‐Morgenstern, Dmitry A. Gordenin, Barbara Hutter, David Jones, Young Seok Ju, Marat D. Kazanov, Leszek J. Klimczak, Youngil Koh, Kiran Kumar, Eunjung Alice Lee, Jake June-Koo Lee, Geoff Macintyre, Florian Markowetz, Matthew Meyerson, Satoru Miyano, Fábio C. P. Navarro, Stephan Ossowski, Peter J. Park, John V. Pearson, Karsten Rippe, Steven A. Roberts, Bernardo Rodríguez–Martín, Ralph Scully, Mark Shackleton, David Torrents, Izar Villasante, Joachim Weischenfeldt, Lixing Yang, Sung-Soo Yoon, Gad Getz, Lauri A. Aaltonen, Adam Abeshouse, Hiroyuki Aburatani, David J. Adams, Nishant Agrawal, Keun Soo Ahn, Sung-Min Ahn, Hiroshi Aikata, Rehan Akbani, Hikmat Al‐Ahmadie, Sultan T. Al‐Sedairy, Fátima Al‐Shahrour, Malik Alawi, Monique Albert, Kenneth Aldape, Ludmil B. Alexandrov, Adrian Ally, Kathryn Alsop, Fernanda Amary, Brice Aminou, Ole Ammerpohl, Matthew J. Anderson, Yeng Ang, Davide Antonello, Pavana Anur, Samuel Aparício, Elizabeth L. Appelbaum, Yasuhito Arai, Axel Aretz, Koji Arihiro, Shun‐ichi Ariizumi, Joshua Armenia, Laurent Arnould, L. Sylvia, Yassen Assenov, Gurnit Atwal, Sietse Aukema, J. Todd Auman, Miriam R. R. Aure, Philip Awadalla, Marta Aymerich, Matthew H. Bailey, Peter J. Bailey, Miruna Balasundaram, Saianand Balu, Rosamonde E. Banks, Stefano Barbi, Andrew P. Barbour, Jill S. Barnholtz‐Sloan, Hugh Barr, Elisabet Barrera, John Bartlett, Javier Bartolomé, Claudio Bassi, Oliver F. Bathe, Daniel Baumhoer, Prashant Bavi, Stephen B. Baylin, Wojciech Bażant, Duncan Beardsmore, Tim Beck, Sam Behjati, Andreas Behren, Beifang Niu, Cindy Bell, Sergi Beltrán, Christopher C. Benz, Andrew Berchuck, Anke K. Bergmann, Erik N. Bergstrom, Benjamin P. Berman, Daniel M. Berney, Mario Berríos, Samantha Bersani, Miguel Betancourt, Vinayak Bhandari, Shriram G. Bhosle, Andrew V. Biankin, Matthias Bieg, Darell D. Bigner, Hans Binder, Ewan Birney, Michael Birrer, Nidhan K. Biswas, Bodil Bjerkehagen, Tom Bodenheimer, Lori Boice, Giada Bonizzato, Johann S. de Bono, Arnoud Boot, Åke Borg, Arndt Borkhardt, Ivan Borozan, Christoph W. Borst, Marcus Bosenberg, Mattia Bosio, Jacqueline Boultwood, Guillaume Bourque, G. Steven Bova, David Bowen, Reanne Bowlby, Sandrine Boyault, Rich Boyce, Jeffrey M. Boyd, Alvis Brāzma, Paul E. Brennan, Daniel S. Brewer, Arie B. Brinkman, Robert G. Bristow, Russell R. Broaddus, Jane E. Brock, Malcolm V. Brock, Annegien Broeks, Angela N. Brooks, Denise Brooks, Timothy J. C. Bruxner, Alicia L. Bruzos, Alex Buchanan, Ivo Buchhalter, Christiane Buchholz, Susan Bullman, Hazel Burke, Birgit Burkhardt, John Busanovich, Carlos D. Bustamante, Adam P. Butler, Atul J. Butte, Niall J. Byrne, Anne‐Lise Børresen‐Dale, Rory Johnson, Andy Cafferkey, Declan Cahill, Claudia Calabrese, Carlos Caldas, Fabien Calvo, Niedzica Camacho, Elı́as Campo, Cinzia Cantù, Shaolong Cao, Thomas E. Carey, Rebecca Carlsen, Ivana Cataldo, Mario Cazzola, Jonathan Cebon, Robert Cerfolio, Dianne Chadwick, Drc Chalmers, Calvin Wing Yiu Chan, Vishal S. Chandan, David K. Chang, Stephen J. Chanock, Aurélien Chateigner, Nilanjan Chatterjee, Kazuaki Chayama, Hsiao‐Wei Chen, Jieming Chen, Ken Chen, Yiwen Chen, Zhaohong Chen, Andrew D. Cherniack, Jeremy Chien, Yoke-Eng Chiew, Suet‐Feung Chin, Juok Cho, Sunghoon Cho, Wan Choi, Christine Chomienne, Zechen Chong, Su Pin Choo, Angela Chou, Angelika N. Christ, Elizabeth L. Christie, Eric Chuah, Carrie Cibulskis, Kristian Cibulskis, Sara Cingarlini, Peter Clapham, Alexander Claviez, Sean P. Cleary, Nicole Cloonan, Marek Cmero, Colin C. Collins, Ashton A. Connor, Susanna L. Cooke, Colin S. Cooper, Leslie Cope, Vincenzo Corbo, Matthew G. Cordes, Stephen Cordner, Kyle R. Covington, Prue A. Cowin, Brian Craft, Chad J. Creighton, Yupeng Cun, Erin Curley, Ioana Cutcutache, Karolina Czajka, Bogdan Czerniak, Rebecca A. Dagg, Ludmila Danilova, Maria Vittoria Davì, Natalie R. Davidson, Helen Davies, Ian J. Davis, Brandi N. Davis‐Dusenbery, Kevin J. Dawson, Francisco M. De La Vega, Ricardo De Paoli‐Iseppi, Timothy Defreitas, Angelo Paolo Dei Tos, Olivier Delaneau, John A. Demchok, Jonas Demeulemeester, German Demidov, Deniz Demircioğlu, Nening M. Dennis, Robert E. Denroche, Stefan C. Dentro, Nikita Desai, Vikram Deshpande, Amit G. Deshwar, Christine Desmedt, Noreen Dhalla, Neesha C. Dhani, Rajiv Dhir, Anthony DiBiase, Klev Diamanti, Li Ding, Huy Q. Dinh, Luc Dirix, HarshaVardhan Doddapaneni, Nilgun Donmez, Michelle T. Dow, Ronny Drapkin, Oliver Drechsel, Ruben M. Drews, Serge Serge, Tim Dudderidge, Michael Dunn, Lewis Jonathan Dursi, Fraser R. Duthie, Ken Dutton‐Regester, Jenna Eagles, Douglas F. Easton, Stuart Edmonds, Sandra E. Edwards, Rosalind A. Eeles, Anna Ehinger, Roland Eils, Adel K. El‐Naggar, Matthew Eldridge, Kyle Ellrott, Serap Erkek, Geòrgia Escaramís, Shadrielle M. G. Espiritu, Jorunn E. Eyfjord, Bishoy M. Faltas, Daiming Fan, Yu Fan, William C. Faquin, Claudiu Farcas, Matteo Fassan, Aquila Fatima, Francesco Favero, Nodirjon Fayzullaev, Ina Felau, Sián Fereday, Martin L. Ferguson, Vincent Ferretti, Matthew A. Field, Gaetano Finocchiaro, Cyril Fisher, Matthew W. Fittall, Anna Fitzgerald, Rebecca C. Fitzgerald, Adrienne M. Flanagan, Neil Fleshner, Paul Flicek, John A. Foekens, Kwun M. Fong, Christopher S. Foster, Natalie S. Fox, Michael Fraser, Scott Frazer, William A. Friedman, Catrina C. Fronick, Akihiro Fujimoto, Masashi Fujita, Masashi Fukayama, Lucinda A. Fulton, Robert S. Fulton, Mayuko Furuta, P. Andrew Futreal, Anja Füllgrabe, Stacey Gabriel, Steven Gallinger, Jianjiong Gao, Shengjie Gao, Levi A. Garraway, Øystein Garred, Erik Garrison, Nils Gehlenborg, Josep L. L. Gelpi, Joshy George, Daniela S. Gerhard, Clarissa Gerhäuser, Jeffrey E. Gershenwald, Moritz Gerstung, Mohammed Ghori, Ronald Ghossein, Nasra H. Giama, Richard A. Gibbs, Bob Gibson, Anthony J. Gill, Pelvender Gill, Dilip D. Giri, Dominik Głodzik, Vincent J. Gnanapragasam, Maria Elisabeth Goebler, Mary J. Goldman, Carmen Gómez, Santiago Gonzalez, James Gossage, Kunihito Gotoh, Ramaswamy Govindan, Dorthe Grabau, Janet S. Graham, Robert C. Grant, Anthony R. Green, Eric Green, Liliana Greger, Nicola Grehan, Sonia Grimaldi, Sean M. Grimmond, Robert L. Grossman, Adam Grundhoff, Gunes Gundem, Manaswi Gupta, Shailja Gupta, Jonathan Göke, Gavin Ha, Andrea Haake, Siegfried Haas, Kerstin Haase, Faraz Hach, Syed Haider, Natsuko Hama, Freddie C. Hamdy, Anne Hamilton, Mark P. Hamilton, Leng Han, George B. Hanna, Martin Hansmann, Olivier Harismendy, Ivon Harliwong, Eoghan Harrington, Takanori Hasegawa, David Haussler, Steve Hawkins, Shinya Hayami, Shuto Hayashi, D. Neil Hayes, Stephen J. Hayes, Nicholas K. Hayward, Steven Hazell, Xiaotong Yao, Allison P. Heath, Simon Heath, David W. Hedley, Apurva M. Hegde, David I. Heiman, Michael C. Heinold, Zachary Heins, Lawrence E. Heisler, Eva Hellstrom-Lindberg, Seong Gu Heo, Austin J. Hepperla, José María Heredia‐Genestar, Peter Hersey, Hólmfríður Hilmarsdóttir, Jonathan Hinton, Satoshi Hirano, Nobuyoshi Hiraoka, Katherine A. Hoadley, Jessica I. Hoell, Steve Hoffmann, Oliver Hofmann, Andrea Holbrook, Aliaksei Z. Holik, Michael A. Hollingsworth, Oliver Holmes, Robert A. Holt, Hong Chen, Eun Pyo Hong, Jongwhi H. Hong, Gerrit K. Hooijer, Fumie Hosoda, Yong Hou, Volker Hovestadt, William Howat, Alan P. Hoyle, Ralph H. Hruban, Taobo Hu, Xing Hua, Kuan-lin Huang, Mei Huang, Mi Ni Huang, Vincent Huang, Yi Huang, Wolfgang Huber, Thomas J. Hudson, Michael Hummel, Jillian A. Hung, David G. Huntsman, Ted R. Hupp, Jason T. Huse, Matthew R. Huska, Carolyn M. Hutter, Daniel Hübschmann, Christine A. Iacobuzio–Donahue, Charles D. Imbusch, Seiya Imoto, William B. Isaacs, Shumpei Ishikawa, Murat Iskar, S. M. Ashiqul Islam, Michael Ittmann, Sinisa Ivkovic, Jocelyne Jacquemier, Valerie Jakrot, Nigel B. Jamieson, Gun Ho Jang, Se Jin Jang, Joy C. Jayaseelan, Reyka G. Jayasinghe, Karine Jegalian, Jennifer L. Jennings, Seung-Hyup Jeon, Lara Jerman, Yuan Ji, Wei Jiao, Peter A. Johansson, Amber L. Johns, Jeremy Johns, Todd A. Johnson, Clemency Jolly, Yann Joly, Jón G. Jónasson, Corbin D. Jones, Nic Jones, Steven J.M. Jones, Jos Jonkers, Hartmut Juhl, Jongsun Jung, Natalie Jäger, Rolf Kabbe, Vera B. Kaiser, Hojabr Kakavand, Sangeetha Kalimuthu, Christof von Kalle, Koo Jeong Kang, Katalin Karászi, Beth Y. Karlan, Rosa Karlić, Dennis Karsch, Karin S. Kassahn, Hitoshi Katai, Mamoru Kato, Hiroto Katoh, Yoshiiku Kawakami, Jonathan D. Kay, Stephen H. Kazakoff, Maria Keays, Electron Kebebew, Richard Kefford, James G. Kench, Catherine J. Kennedy, Jules N. A. Kerssemakers, David Khoo, Vincent Khoo, Narong Khuntikeo, Helena Kilpinen, Hark Kyun Kim, Hyung‐Lae Kim, Hyung-Yong Kim, Hyunghwan Kim, Jaegil Kim, Jihoon Kim, Tari A. King, Wolfgang Hiddemann, Kortine Kleinheinz, Stian Knappskog, Michael Kneba, Bartha Maria Knoppers, Daisuke Komura, Mitsuhiro Komura, Gu Kong, Marcel Kool, Viktoriya Korchina, Andrey Korshunov, Michael Koscher, Roelof Koster, Zsofia Kote‐Jarai, Antonios Koures, Milena Kovacevic, Bárbara Kremeyer, Helene Kretzmer, Markus Kreuz, Savitri Krishnamurthy, Dieter Kube, Pardeep Kumar, Yogesh Kumar, Ritika Kundra, Kirsten Kübler, Ralf Küppers, Jesper Lagergren, Phillip H. Lai, Peter W. Laird, Sunil R. Lakhani, Christopher M. Lalansingh, Emilie Lalonde, Fabien C. Lamaze, Adam Lambert, Eric Lander, Pablo Landgraf, Luca Landoni, Anita Langerød, Andrés Lanzós, Denis Larsimont, Mark Lathrop, Loretta M. S. Lau, Chris Lawerenz, Rita T. Lawlor, Alexander J. Lazar, Ana Mijalkovic Lazic, Xuan Le, Darlene Lee, Hee Jin Lee, Jeong‐Yeon Lee, Juhee Lee, Ming Ta Michael Lee, Henry Lee-Six, Hans Lehrach, Dido Lenze, Conrad Leonard, Daniel Leongamornlert, Ignaty Leshchiner, Louis Létourneau, Ivica Letunić, Douglas A. Levine, Lora Lewis, Tim Ley, Chang Li, Constance H. Li, Haiyan Irene Li, Jun Li, Lin Li, Siliang Li, Xiaobo Li, Xinyue Li, Han Liang, Sheng‐Ben Liang, Peter Lichter, Pei Lin, W. M. Linehan, Ole Christian Lingjærde, Dongbing Liu, Fei-Fei Fei Liu, Fenglin Liu, Jia Liu, Xingmin Liu, Julie Livingstone, Dimitri Livitz, Naomi Livni, Markus Loeffler, Georgina V. Long, Armando López‐Guillermo, David N. Louis, Laurence Lovat, Yiling Lu, Yong‐Jie Lu, Youyong Lu, Claudio Luchini, Ilinca M. Lungu, Xuemei Luo, Hayley J. Luxton, Lisa Lype, Cristina López, Carlos López-Otı́n, Z. Eric, Yussanne Ma, Gaëtan MacGrogan, Shona MacRae, Kazuhiro Maejima, Andrea Mafficini, Dennis T. Maglinte, Arindam Maitra, Partha P. Majumder, Luca Malcovati, Salem Malikić, Giuseppe Malleo, Graham J. Mann, Luisa Mantovani‐Löffler, Giovanni Marchegiani, Elaine R. Mardis, Adam A. Margolin, Maximillian G. Marin, Julia Markowski, Jeffrey S. Marks, Tomàs Marquès‐Bonet, Marco A. Marra, Luke Marsden, John W.M. Martens, Sancha Martin, José I. Martín‐Subero, R. Jay Mashl, Charles Massie, Thomas J. Matthew, Lucy Matthews, Erik Mayer, Simon Mayes, Michael Mayo, Faridah Mbabaali, Karen McCune, Ultan McDermott, Michael D. McLellan, John D. McPherson, John R. McPherson, Treasa A. McPherson, Samuel R. Meier, Alice Meng, Shaowu Meng, Andrew Menzies, Neil D. Merrett, Sue Merson, Piotr A. Mieczkowski, George L. Mihaiescu, Sanja Mijalković, Tom Mikkelsen, Michèle Milella, Linda Mileshkin, Christopher A. Miller, David K. Miller, Jessica K. Miller, Gordon B. Mills, Ana Milovanovic, Sarah Minner, Marco Miotto, Gisela Mir Arnau, Thomas J. Mitchell, Naoki Miyoshi, Shinichi Mizuno, Fruzsina Molnár-Gábor, Malcolm J. Moore, Richard A. Moore, Sandro Morganella, Quaid Morris, Lisle E. Mose, Catherine D. Moser, Andrew J. Mungall, Karen Mungall, Elizabeth A. Musgrove, Ville Mustonen, David G. Mutch, Francesc Muyas, Donna M. Muzny, Alfonso Muñoz, Jerome Myers, Ola Myklebost, Peter Mӧller, Genta Nagae, Adnan Nagrial, Hardeep K. Nahal-Bose, Hitoshi Nakagama, Hiromi Nakamura, Tõru Nakamura, Kaoru Nakano, Tannistha Nandi, Jyoti Nangalia, Mia Nastic, Arcadi Navarro, David E. Neal, Gerd Nettekoven, Felicity Newell, Steven Newhouse, Yulia Newton, Alvin Wei Tian Ng, Chi‐Fai Ng, Jonathan Nicholson, David M. Nicol, Yongzhan Nie, G. Petur Nielsen, Serena Nik‐Zainal, Michael S. Noble, Kátia Nones, Paul A. Northcott, Faiyaz Notta, Brian D. O’Connor, Peter O’Donnell, Maria O’Donovan, Sarah O’Meara, Brian Patrick O’Neill, J. Robert O’Neill, David Ocaña, Angelica Ochoa, Layla Oesper, Christopher Ogden, Hideki Ohdan, Kazuhiro Ohi, Lucila Ohno‐Machado, Karin A. Oien, Akinyemi I. Ojesina, Hidenori Ojima, Takuji Okusaka, Larsson Omberg, Choon Kiat Ong, Stephan Ossowski, German Ott, B. F. Francis Ouellette, Christine P’ng, Salvatore Paiella, Chawalit Pairojkul, Marina Pajic, Qiang Pan‐Hammarström, Elli Papaemmanuil, Irene Papatheodorou, Nagarajan Paramasivam, Ji Wan Park, Joong‐Won Park, Joel S. Parker, Simon L. Parsons, Harvey I. Pass, Danielle Pasternack, Alessandro Pastore, Ann‐Marie Patch, Iris Pauporté, Antonio Pea, Chandra Sekhar Pedamallu, Paolo Pederzoli, Martin Peifer, Nathan A. Pennell, Charles M. Perou, Marc D. Perry, Gloria M. Petersen, Myron Peto, Nicholas J. Petrelli, Robert Petryszak, Stefan M. Pfister, Mark Phillips, Hilda A. Pickett, Todd Pihl, Nischalan Pillay, Sarah E. Pinder, Mark Pinese, Andreia V. Pinho, Esa Pitkänen, Xavier Pivot, Elena Piñeiro-Yáñez, Laura Planko, Christoph Plass, Paz Polak, Irinel Popescu, Olga Potapova, Aparna Prasad, Shaun R. Preston, Manuel Prinz, Antonia L. Pritchard, Stephenie D. Prokopec, Elena Provenzano, Xosé S. Puente, Gulietta M. Pupo, Colin A. Purdie, Michael C. Quinn, Raquel Rabionet, Janet S. Rader, Bernhard Radlwimmer, Petar Radovic, Benjamin Raeder, Keiran Raine, Manasa Ramakrishna, Kamna Ramakrishnan, Suresh Ramalingam, W. Kimryn Rathmell, Tobias Rausch, Guido Reifenberger, Jorge S. Reis‐Filho, Victor E. Reuter, Sheila M. Reynolds, Yasser Riazalhosseini, Andrea L. Richardson, Julia Richter, Matthew D. Ringel, Markus Ringnér, Yasushi Rino, Jeffrey Roach, A. Gordon Robertson, Alan J. Robertson, Javier Bartolomé Rodriguez, F. Germán Rodríguez-González, Michael H. A. Roehrl, Marius Rohde, Hirofumi Rokutan, Gilles Romieu, Ilse Rooman, Tom Roques, Daniel Rosebrock, Mara Rosenberg, Philip Rosenstiel, Andreas Rosenwald, Edward Rowe, Romina Royo, Steven G. Rozen, Yulia Rubanova, Vasilisa A. Rudneva, Borislav C. Rusev, Andrea Ruzzenente, Gunnar Rätsch, Veronica Y. Sabelnykova, Sara Sadeghi, S. Cenk Şahinalp, Natalie Saini, Mihoko Saito-Adachi, Adriana Salcedo, Roberto Salgado, Richard Sallari, Charles Saller, Roberto Salvia, Michelle Sam, Jaswinder S. Samra, Francisco Sánchez-Vega, Grant Sanders, Rajiv Sarin, Iman Sarrafi, Aya Sasaki-Oku, Torill Sauer, Guido Sauter, Robyn P.M. Saw, Maria Scardoni, Christopher J. Scarlett, Aldo Scarpa, Ghislaine Scélo, Dirk Schadendorf, Jacqueline E. Schein, Markus B. Schilhabel, Matthias Schlesner, Thorsten Schlomm, Heather K. Schmidt, Sarah‐Jane Schramm, Stefan Schreiber, Nikolaus Schultz, Roland F. Schwarz, Richard A. Scolyer, David Scott, Raja S. Seethala, Ayellet V. Segrè, Iris Selander, Colin A. Semple, Yasin Şenbabaoğlu, Subhajit Sengupta, Elisabetta Sereni, Stefano Serra, Dennis C. Sgroi, Nimish Shah, Sagedeh Shahabi, Catherine A. Shang, Ping Shang, Troy Shelton, Hui Shen, Rebecca Shepherd, Ruian Shi, Yan Shi, Yu-Jia Shiah, Tatsuhiro Shibata, Juliann Shih, Eigo Shimizu, Kiyo Shimizu, Seung Jun Shin, Yuichi Shiraishi, Tal Shmaya, Ilya Shmulevich, Solomon I. Shorser, Charles Short, Suyash Shringarpure, Craig D. Shriver, Reiner Siebert, Anieta M. Sieuwerts, Sabina Signoretti, Katarzyna Sikora, Michele Simbolo, Ronald Simon, Janae V. Simons, Jared T. Simpson, Peter T. Simpson, Samuel Singer, Payal Sipahimalani, Tara Skelly, Marcel Smid, Jaclyn Smith, Karen Smith‐McCune, Nicholas D. Socci, Heidi J. Sofia, Matthew G. Soloway, Lei Song, Anil K. Sood, Sharmila Sothi, Christos Sotiriou, Cameron M. Soulette, Paul N. Span, Paul T. Spellman, Nicola Sperandio, Andrew J. Spillane, Oliver Spiro, Jonathan Spring, Johan Staaf, Peter F. Stadler, Peter Staib, Stefan G. Stark, Lucy Stebbings, Ólafur Andri Stefánsson, Oliver Stegle, Alasdair Stenhouse, Stephan Stilgenbauer, Miranda D. Stobbe, Michael R. Stratton, Jonathan R. Stretch, Adam J. Struck, Henk G. Stunnenberg, Hong Su, Xiaoping Su, Ren Sun, Stéphanie Sungalee, Hana Sušak, Akihiro Suzuki, Fred C.G.J. Sweep, Monika Szczepanowski, Holger Sültmann, Takashi Yugawa, Angela Tam, Benita Kiat Tee Tan, Donghui Tan, Patrick Tan, Hiroko Tanaka, Hirokazu Taniguchi, Tomas Tanskanen, Maxime Tarabichi, Roy Tarnuzzer, Patrick Tarpey, Morgan L. Taschuk, Kenji Tatsuno, Simon Tavaré, Darrin F. Taylor, Amaro Taylor‐Weiner, Jon W. Teague, Bin Tean Teh, Varsha Tembe, Javier Temes, Kevin Thai, Sarah P. Thayer, Nina Thiessen, Gilles Thomas, Sarah Thomas, Alan Thompson, Alastair M. Thompson, John F. Thompson, R. Houston Thompson, Heather Thorne, Leigh B. Thorne, Adrian Thorogood, Nebojša Tijanić, Lee E. Timms, Roberto Tirabosco, Marta Tojo, Stefania Tommasi, Christopher W. Toon, Umut H. Toprak, Giampaolo Tortora, Jörg Tost, Yasushi Totoki, David Townend, Nadia Traficante, Isabelle Treilleux, Jean-Rémi Trotta, Lorenz Trümper, Ming‐Sound Tsao, Olga Tucker, Richard Turkington, Daniel J. Turner, Andrew Tutt, Masaki Ueno, Naoto T. Ueno, Christopher B. Umbricht, Husen M. Umer, Tim Underwood, Lara Urban, Tomoko Urushidate, Tetsuo Ushiku, David Van Den Berg, Steven Van Laere, Peter Van Loo, Erwin G. Van Meir, Gert G. Van den Eynden, Theodorus van der Kwast, Naveen Vasudev, Ravikiran Vedururu, Umadevi Veluvolu, Shankar Vembu, Peter Vermeulen, Clare Verrill, Alain Viari, David Vicente, Caterina Vicentini, K. VijayRaghavan, Juris Vīksna, Ricardo E. Vilain, Anne Vincent‐Salomon, Tapio Visakorpi, Douglas Voet, Paresh Vyas, Ignacio Vázquez-Garćıa, Nick M. Waddell, Rabea Wagener, Jeremiah A. Wala, Jian Wang, Linghua Wang, Qi Wang, Wenyi Wang, Yumeng Wang, Zhining Wang, Paul Waring, Hans-Jörg Warnatz, Anne Y. Warren, David C. Wedge, Dieter Weichenhan, Paul Weinberger, John N. Weinstein, Daniel J. Weisenberger, Ian Welch, Michael C. Wendl, Johannes Werner, Justin P. Whalley, Hayley C. Whitaker, Dennis A. Wigle, Matthew D. Wilkerson, Ashley Williams, James S. Wilmott, Gavin W. Wilson, Julie M. Wilson, Richard K. Wilson, Boris Winterhoff, Jeffrey A. Wintersinger, Maciej Wiznerowicz, Stephan Wolf, Bernice H. Wong, Tina Wong, Winghing Wong, Youngchoon Woo, Scott Wood, Bradly G. Wouters, A. Jordan Wright, Derek Wright, Mark H. Wright, Chin‐Lee Wu, Dai‐Ying Wu, Jianmin Wu, Kui Wu, Yang Wu, Zhenggang Wu, Xi Liu, Tian Xia, Qian Xiang, Xiao Xiao, Rui Xing, Heng Xiong, Qinying Xu, Yanxun Xu, Hong Xue, Shinichi Yachida, Sergei Yakneen, Takafumi N. Yamaguchi, Masakazu Yamamoto, Shogo Yamamoto, Hiroki Yamaue, Fan Yang, Huanming Yang, Jean Yang, Liming Yang, Shanlin Yang, Tsun-Po Yang, Yang Yang, Xiaotong Yao, Marie‐Laure Yaspo, Lucy Yates, Christina Yau, Chen Ye, Kai Ye, Venkata D. Yellapantula, Christopher J. Yoon, Fouad Yousif, Kaixian Yu, Willie Yu, Yingyan Yu, Ke Yuan, Yuan Yuan, Denis Yuen, Christina K. Yung, Olga Zaikova, Marc Zapatka, Jean C. Zenklusen, Thorsten Zenz, Nikolajs Zeps, Fan Zhang, Hailei Zhang, Hongwei Zhang, Hongxin Zhang, Jiashan Zhang, Junjun Zhang, Xiuqing Zhang, Xuanping Zhang, Zemin Zhang, Zhongming Zhao, Liangtao Zheng, Xiuqing Zheng, Wanding Zhou, Yong Zhou, Bin Zhu, Hongtu Zhu, Jingchun Zhu, Shida Zhu, Xueqing Zou, Anna DeFazio, Nicholas van As, Carolien H. M. van Deurzen, Marc J. van de Vijver, Laura van’t Veer

Bibliographic record

VenueNature · 2020
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer Genomics and Diagnostics
Canadian institutionsVector InstituteProstate Cancer CanadaLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalPrincess Margaret Cancer CentreUniversity of CalgaryGenome CanadaCanada's Michael Smith Genome Sciences CentreMcGill UniversityUniversity of OttawaSimon Fraser UniversityMcGill University and Génome Québec Innovation CentreToronto General HospitalUniversity Health NetworkBC Cancer AgencySickKids FoundationUniversity of TorontoInstitute of Cancer ResearchOntario Institute for Cancer Research
FundersNational Institute of General Medical SciencesNational Cancer InstituteNational Institutes of HealthMinisterio de Economía y CompetitividadCancer Research UKBroad InstituteFrancis Crick InstituteNational Human Genome Research InstituteWellcome TrustKræftens BekæmpelseCure Starts Now FoundationDana-Farber Cancer Institute
KeywordsSomatic cellGenomeBiologyCoding (social sciences)GeneticsComputational biologyEvolutionary biologyGeneStatisticsMathematics

Abstract

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Abstract The discovery of drivers of cancer has traditionally focused on protein-coding genes 1–4 . Here we present analyses of driver point mutations and structural variants in non-coding regions across 2,658 genomes from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium 5 of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). For point mutations, we developed a statistically rigorous strategy for combining significance levels from multiple methods of driver discovery that overcomes the limitations of individual methods. For structural variants, we present two methods of driver discovery, and identify regions that are significantly affected by recurrent breakpoints and recurrent somatic juxtapositions. Our analyses confirm previously reported drivers 6,7 , raise doubts about others and identify novel candidates, including point mutations in the 5′ region of TP53 , in the 3′ untranslated regions of NFKBIZ and TOB1 , focal deletions in BRD4 and rearrangements in the loci of AKR1C genes. We show that although point mutations and structural variants that drive cancer are less frequent in non-coding genes and regulatory sequences than in protein-coding genes, additional examples of these drivers will be found as more cancer genomes become available.

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How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.007

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0020.002
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.014
GPT teacher head0.304
Teacher spread0.290 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations663
Published2020
Admission routes1
Has abstractyes

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