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Pan-cancer analysis...
Pan-cancer analysis of whole genomes
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- Campbell, PJ (author)
- Univ Cambridge, Dept Haematol, Cambridge, England;Wellcome Sanger Inst, Hinxton, England,Wellcome Trust Sanger Institute
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Getz, G (author)
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Korbel, JO (author)
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Stuart, JM (author)
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- Jennings, JL (author)
- Karolinska Institutet
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Stein, LD (author)
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Perry, MD (author)
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Nahal-Bose, HK (author)
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Ouellette, BFF (author)
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Li, CH (author)
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Rheinbay, E (author)
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Nielsen, GP (author)
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Sgroi, DC (author)
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Wu, CL (author)
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- Wadelius, Claes, 1955- (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
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Deshpande, V (author)
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Boutros, PC (author)
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Lazar, AJ (author)
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Hoadley, KA (author)
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Louis, DN (author)
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Dursi, LJ (author)
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Yung, CK (author)
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Bailey, MH (author)
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Saksena, G (author)
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Raine, KM (author)
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Buchhalter, I (author)
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Kleinheinz, K (author)
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Schlesner, M (author)
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- Zhang, J (author)
- NCI, NIH, Bethesda, MD 20892 USA,National Cancer Institute, USA
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Wang, W (author)
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Wheeler, DA (author)
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Ding, L (author)
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Simpson, JT (author)
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O'Connor, BD (author)
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Yakneen, S (author)
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Ellrott, K (author)
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Miyoshi, N (author)
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Butler, AP (author)
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Royo, R (author)
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Shorser, S (author)
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Vazquez, M (author)
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Rausch, T (author)
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Tiao, G (author)
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Waszak, SM (author)
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Rodriguez-Martin, B (author)
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Shringarpure, S (author)
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Wu, DY (author)
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Demidov, GM (author)
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Delaneau, O (author)
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Hayashi, S (author)
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Imoto, S (author)
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Habermann, N (author)
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Segre, A (author)
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Garrison, E (author)
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Cafferkey, A (author)
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Alvarez, EG (author)
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Heredia-Genestar, JM (author)
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Muyas, F (author)
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Drechsel, O (author)
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Bruzos, AL (author)
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Temes, J (author)
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Zamora, J (author)
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Baez-Ortega, A (author)
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Kim, HL (author)
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Mashl, RJ (author)
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Ye, K (author)
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DiBiase, A (author)
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Huang, KL (author)
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Letunic, I (author)
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McLellan, MD (author)
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Newhouse, SJ (author)
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Shmaya, T (author)
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Kumar, S (author)
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Wedge, DC (author)
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Wright, MH (author)
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Yellapantula, VD (author)
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Gerstein, M (author)
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Khurana, E (author)
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Marques-Bonet, T (author)
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Navarro, A (author)
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Bustamante, CD (author)
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Siebert, R (author)
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Nakagawa, H (author)
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Easton, DF (author)
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Ossowski, S (author)
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Tubio, JMC (author)
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De La Vega, FM (author)
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Estivill, X (author)
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Yuen, D (author)
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Mihaiescu, GL (author)
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Omberg, L (author)
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Ferretti, V (author)
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Sabarinathan, R (author)
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Pich, O (author)
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Gonzalez-Perez, A (author)
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Weiner, AT (author)
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Fittall, MW (author)
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Demeulemeester, J (author)
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Tarabichi, M (author)
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Roberts, ND (author)
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Van Loo, P (author)
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Cortes-Ciriano, I (author)
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Urban, L (author)
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Park, P (author)
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, in Zhu (author)
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Pitkaenen, E (author)
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Li, Y (author)
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Saini, N (author)
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Klimczak, LJ (author)
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Weischenfeldt, J (author)
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Sidiropoulos, N (author)
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Alexandrov, LB (author)
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Rabionet, R (author)
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Escaramis, G (author)
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Bosio, M (author)
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Holik, AZ (author)
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Susak, H (author)
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Prasad, A (author)
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Erkek, S (author)
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Calabrese, C (author)
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Raeder, B (author)
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Harrington, E (author)
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Mayes, S (author)
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Turner, D (author)
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Juul, S (author)
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Roberts, SA (author)
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Song, L (author)
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Koster, R (author)
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Mirabello, L (author)
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Hua, X (author)
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Tanskanen, TJ (author)
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Tojo, M (author)
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Chen, J (author)
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- Aaltonen, LA (author)
- Karolinska Institutet
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Ratsch, G (author)
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Schwarz, RF (author)
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Butte, AJ (author)
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Brazma, A (author)
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Chanock, SJ (author)
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Chatterjee, N (author)
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Stegle, O (author)
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Harismendy, O (author)
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Bova, GS (author)
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Gordenin, DA (author)
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Haan, D (author)
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Sieverling, L (author)
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Feuerbach, L (author)
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Chalmers, D (author)
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Joly, Y (author)
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Knoppers, B (author)
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Molnar-Gabor, F (author)
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Phillips, M (author)
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Thorogood, A (author)
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Townend, D (author)
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Goldman, M (author)
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Fonseca, NA (author)
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Xiang, Q (author)
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Craft, B (author)
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Pineiro-Yanez, E (author)
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Munoz, A (author)
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Petryszak, R (author)
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Fullgrabe, A (author)
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Al-Shahrour, F (author)
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Keays, M (author)
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Haussler, D (author)
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Weinstein, J (author)
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Huber, W (author)
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Valencia, A (author)
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Papatheodorou, I (author)
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Zhu, J (author)
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Fan, Y (author)
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Torrents, D (author)
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Bieg, M (author)
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Chen, K (author)
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Chong, Z (author)
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Cibulskis, K (author)
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Eils, R (author)
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Fulton, RS (author)
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Gelpi, JL (author)
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Gonzalez, S (author)
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Gut, IG (author)
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Hach, F (author)
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- Heinold, M (author)
- Karolinska Institutet
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Hu, T (author)
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Huang, V (author)
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Hutter, B (author)
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Jaeger, N (author)
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Jung, J (author)
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Kumar, Y (author)
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Lalansingh, C (author)
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Leshchiner, I (author)
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Livitz, D (author)
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Ma, EZ (author)
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Maruvka, YE (author)
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Milovanovic, A (author)
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Nielsen, MM (author)
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Paramasivam, N (author)
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Pedersen, JS (author)
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Puiggros, M (author)
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Sahinalp, SC (author)
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Sarrafi, I (author)
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Stewart, C (author)
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Stobbe, MD (author)
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Wala, JA (author)
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Wang, J (author)
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Wendl, M (author)
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Werner, J (author)
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Wu, Z (author)
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Xue, H (author)
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Yamaguchi, TN (author)
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Yellapantula, V (author)
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Davis-Dusenbery, BN (author)
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Grossman, RL (author)
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Kim, Y (author)
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Heinold, MC (author)
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Hinton, J (author)
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Jones, DR (author)
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Menzies, A (author)
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Stebbings, L (author)
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Hess, JM (author)
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Rosenberg, M (author)
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Dunford, AJ (author)
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Gupta, M (author)
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Imielinski, M (author)
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Meyerson, M (author)
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Beroukhim, R (author)
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Reimand, J (author)
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Dhingra, P (author)
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Favero, F (author)
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Dentro, S (author)
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Wintersinger, J (author)
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Rudneva, V (author)
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Park, JW (author)
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Hong, EP (author)
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Heo, SG (author)
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Kahles, A (author)
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, jong-Van Lehmann (author)
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Soulette, CM (author)
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Shiraishi, Y (author)
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Liu, F (author)
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He, Y (author)
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- Demircioglu, D (author)
- Karolinska Institutet
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Davidson, NR (author)
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Greger, L (author)
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Li, S (author)
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Liu, D (author)
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Stark, SG (author)
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Zhang, F (author)
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Amin, SB (author)
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Bailey, P (author)
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Chateigner, A (author)
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Frenkel-Morgenstern, M (author)
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Hou, Y (author)
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- Ringnér, Markus (author)
- Lund University,Lunds universitet,Molekylär cellbiologi,Biologiska institutionen,Naturvetenskapliga fakulteten,Molecular Cell Biology,Department of Biology,Faculty of Science
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Kilpinen, H (author)
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Lamaze, FC (author)
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Li, C (author)
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Li, X (author)
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Li, X (author)
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Liu, X (author)
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Marin, MG (author)
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Markowski, J (author)
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Nandi, T (author)
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Ojesina, A (author)
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- Pan-Hammarstrom, Q (author)
- Karolinska Institutet
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Park, PJ (author)
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Pedamallu, CS (author)
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Su, H (author)
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Tan, P (author)
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Teh, B (author)
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Wang, J (author)
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Xiong, H (author)
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Ye, C (author)
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Yung, C (author)
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Zhang, XQ (author)
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Zheng, LT (author)
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Zhu, S (author)
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Awadalla, P (author)
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Creighton, CJ (author)
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Wu, K (author)
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Yang, HM (author)
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Goke, J (author)
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Zhang, Z (author)
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Brooks, AN (author)
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Martincorena, I (author)
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Rubio-Perez, C (author)
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Juul, M (author)
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Schumacher, S (author)
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Shapira, O (author)
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- Tamborero, D (author)
- Karolinska Institutet
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Mularoni, L (author)
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Hornshoj, H (author)
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Deu-Pons, J (author)
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Muinos, F (author)
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Bertl, J (author)
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Guo, Q (author)
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Bazant, W (author)
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Barrera, E (author)
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Al-Sedairy, ST (author)
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Aretz, A (author)
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Bell, C (author)
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Betancourt, M (author)
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Buchholz, C (author)
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Calvo, F (author)
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Chomienne, C (author)
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Dunn, M (author)
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Edmonds, S (author)
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Green, E (author)
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Gupta, S (author)
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Hutter, CM (author)
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Jegalian, K (author)
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Jones, N (author)
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Lu, YY (author)
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Nakagama, H (author)
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Nettekoven, G (author)
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Planko, L (author)
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Scott, D (author)
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Shibata, T (author)
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Shimizu, K (author)
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Stratton, MR (author)
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Yugawa, T (author)
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Tortora, G (author)
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VijayRaghavan, K (author)
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Zenklusen, JC (author)
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Knoppers, BM (author)
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Aminou, B (author)
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Bartolome, J (author)
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Boroevich, KA (author)
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Boyce, R (author)
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Buchanan, A (author)
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Byrne, NJ (author)
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Chen, Z (author)
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Cho, S (author)
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Choi, W (author)
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Clapham, P (author)
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Dursi, LJ (author)
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Eils, J (author)
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Farcas, C (author)
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Fayzullaev, N (author)
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Flicek, P (author)
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Heath, AP (author)
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Hofmann, O (author)
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Hong, JH (author)
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Hudson, TJ (author)
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Huebschmann, D (author)
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Ivkovic, S (author)
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Jeon, SH (author)
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Jiao, W (author)
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Kabbe, R (author)
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Kerssemakers, JNA (author)
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Kim, H (author)
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Kim, J (author)
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Koscher, M (author)
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Kovacevic, M (author)
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Lawerenz, C (author)
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Liu, J (author)
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Mijalkovic, S (author)
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Mijalkovic-Lazic, AM (author)
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Miyano, S (author)
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Nastic, M (author)
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Nicholson, J (author)
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Ocana, D (author)
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Ohi, K (author)
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Ohno-Machado, L (author)
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Pihl, TD (author)
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Prinz, M (author)
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Radovic, P (author)
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Short, C (author)
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Sofia, HJ (author)
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Spring, J (author)
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Struck, AJ (author)
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Tijanic, N (author)
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Vicente, D (author)
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Wang, Z (author)
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Williams, A (author)
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Woo, Y (author)
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Wright, AJ (author)
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Yang, L (author)
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Hamilton, MP (author)
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Johnson, TA (author)
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Kahraman, A (author)
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Kellis, M (author)
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Polak, P (author)
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Sallari, R (author)
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Sinnott-Armstrong, N (author)
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von Mering, C (author)
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Beltran, S (author)
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Gerhard, DS (author)
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Gut, M (author)
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Trotta, JR (author)
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Whalley, JP (author)
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Niu, B (author)
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Espiritu, SMG (author)
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Gao, S (author)
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Huang, Y (author)
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Lalansingh, CM (author)
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Teague, JW (author)
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Wendl, MC (author)
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Abascal, F (author)
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- Grabau, Dorthe (author)
- Lund University,Lunds universitet,Tumörmikromiljö,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Tumor microenvironment,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
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Bandopadhayay, P (author)
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Barenboim, J (author)
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Brunak, S (author)
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Fita, JC (author)
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Chakravarty, D (author)
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Chan, CWY (author)
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- Komorowski, Jan (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Beräkningsbiologi och bioinformatik,Polish Acad Sci, Inst Comp Sci, Warsaw, Poland
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- Diamanti, Klev, 1987- (author)
- Uppsala universitet,Beräkningsbiologi och bioinformatik,Science for Life Laboratory, SciLifeLab
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Fink, JL (author)
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Frigola, J (author)
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Gambacorti-Passerini, C (author)
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Garsed, DW (author)
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Haradhvala, NJ (author)
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Harmanci, AO (author)
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Helmy, M (author)
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Hobolth, A (author)
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Hodzic, E (author)
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Hong, C (author)
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Izarzugaza, JMG (author)
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Johnson, R (author)
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Larsson, E (author)
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Lee, D (author)
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Li, X (author)
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Lin, Z (author)
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Liu, EM (author)
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Fundichely, AM (author)
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McGillivray, PD (author)
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Paczkowska, M (author)
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Park, K (author)
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Park, K (author)
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Pons, T (author)
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Pulido-Tamayo, S (author)
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Salazar, IR (author)
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Reyna, MA (author)
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Rubin, MA (author)
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Schumacher, SE (author)
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Shackleton, M (author)
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Shen, C (author)
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Shrestha, R (author)
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Shuai, S (author)
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Tsunoda, T (author)
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- Umer, Husen Muhammad (author)
- Uppsala universitet,Karolinska Institutet,Beräkningsbiologi och bioinformatik,Science for Life Laboratory, SciLifeLab,Karolinska Inst, Dept Oncol Pathol, Sci Life Lab, Stockholm, Sweden
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Uuskula-Reimand, L (author)
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Verbeke, LPC (author)
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Wadelius, C (author)
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Wadi, L (author)
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Warrell, J (author)
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Wu, G (author)
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Yu, J (author)
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Zhang, J (author)
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Zhang, X (author)
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Zhang, Y (author)
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Zhao, Z (author)
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Zou, L (author)
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Lawrence, MS (author)
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Raphael, BJ (author)
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Craft, D (author)
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Goldman, MJ (author)
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Dinh, HQ (author)
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Hoffmann, S (author)
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Kretzmer, H (author)
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Martin-Subero, J (author)
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Nagae, G (author)
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Shen, H (author)
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Wang, Q (author)
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Zhou, W (author)
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Chan, K (author)
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Dueso-Barroso, A (author)
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Etemadmoghadam, D (author)
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Jones, DTW (author)
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Ju, YS (author)
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Kazanov, MD (author)
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Koh, Y (author)
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Kumar, K (author)
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- Ehinger, Anna (author)
- Lund University,Lunds universitet,Tumörmikromiljö,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Tumor microenvironment,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Skåne University Hospital
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Lee, JJK (author)
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Lynch, AG (author)
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Ng, AWT (author)
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Prokopec, SD (author)
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Vazquez-Garcia, I (author)
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Wu, Y (author)
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Yousif, F (author)
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Yu, W (author)
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Rozen, SG (author)
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Rudneva, VA (author)
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Shringarpure, SS (author)
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Turner, DJ (author)
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Xia, T (author)
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Chang, DK (author)
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Cooke, SL (author)
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Faltas, BM (author)
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Haider, S (author)
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Kaiser, VB (author)
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Karlic, R (author)
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Kato, M (author)
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Kubler, K (author)
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Margolin, A (author)
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Martin, S (author)
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Nik-Zainal, S (author)
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P'ng, C (author)
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Smith, J (author)
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Sun, RX (author)
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Thai, K (author)
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Anur, P (author)
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Morris, QD (author)
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Rubanova, Y (author)
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Salcedo, A (author)
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Sengupta, S (author)
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Shi, R (author)
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Shin, SJ (author)
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(creator_code:org_t)
- 2020-02-05
- 2020
- English.
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In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Abstract
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- Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
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- ref (subject category)
- art (subject category)
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