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The Cancer Genome Atlas (TCGA) cancer genomicsdataset includes over 10,000 tumor-normal exomepairs across 33 different cancer types, in total >400TB of raw data files requiring analysis. Here wedescribe the Multi-Center Mutation Calling in Multi-ple Cancers project, our effort to generate a compre-hensive encyclopedia of somatic mutation calls forthe TCGA data to enable robust cross-tumor-typeanalyses. Our approach accounts for varianceand batch effects introduced by the rapid advance-ment of DNA extraction, hybridization-capture,sequencing, and analysis methods over time. Wepresent best practices for applying an ensemble ofseven mutation-calling algorithms with scoring andartifact filtering. The dataset created by this analysisincludes 3.5 million somatic variants and forms thebasis for PanCan Atlas papers. The results havebeen made available to the research communityalong with the methods used to generate them.This project is the result of collaboration from a num-ber of institutes and demonstrates how team sciencedrives extremely large genomics projects.
Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines
Ellrott, Kyle;Bailey, Matthew H.;Saksena, Gordon;Covington, Kyle R.;Kandoth, Cyriac;Stewart, Chip;Hess, Julian;Ma, Singer;Chiotti, Kami E.;McLellan, Michael;Sofia, Heidi J.;Hutter, Carolyn;Getz, Gad;Wheeler, David;Ding, Li;Caesar-Johnson, Samantha J.;Demchok, John A.;Felau, Ina;Kasapi, Melpomeni;Ferguson, Martin L.;Hutter, Carolyn M.;Sofia, Heidi J.;Tarnuzzer, Roy;Wang, Zhining;Yang, Liming;Zenklusen, Jean C.;Zhang, Jiashan (Julia);Chudamani, Sudha;Liu, Jia;Lolla, Laxmi;Naresh, Rashi;Pihl, Todd;Sun, Qiang;Wan, Yunhu;Wu, Ye;Cho, Juok;DeFreitas, Timothy;Frazer, Scott;Gehlenborg, Nils;Getz, Gad;Heiman, David I.;Kim, Jaegil;Lawrence, Michael S.;Lin, Pei;Meier, Sam;Noble, Michael S.;Saksena, Gordon;Voet, Doug;Zhang, Hailei;Bernard, Brady;Chambwe, Nyasha;Dhankani, Varsha;Knijnenburg, Theo;Kramer, Roger;Leinonen, Kalle;Liu, Yuexin;Miller, Michael;Reynolds, Sheila;Shmulevich, Ilya;Thorsson, Vesteinn;Zhang, Wei;Akbani, Rehan;Broom, Bradley M.;Hegde, Apurva M.;Ju, Zhenlin;Kanchi, Rupa S.;Korkut, Anil;Li, Jun;Liang, Han;Ling, Shiyun;Liu, Wenbin;Lu, Yiling;Mills, Gordon B.;Ng, Kwok-Shing;Rao, Arvind;Ryan, Michael;Wang, Jing;Weinstein, John N.;Zhang, Jiexin;Abeshouse, Adam;Armenia, Joshua;Chakravarty, Debyani;Chatila, Walid K.;de Bruijn, Ino;Gao, Jianjiong;Gross, Benjamin E.;Heins, Zachary J.;Kundra, Ritika;La, Konnor;Ladanyi, Marc;Luna, Augustin;Nissan, Moriah G.;Ochoa, Angelica;Phillips, Sarah M.;Reznik, Ed;Sanchez-Vega, Francisco;Sander, Chris;Schultz, Nikolaus;Sheridan, Robert;Sumer, S. Onur;Sun, Yichao;Taylor, Barry S.;Wang, Jioajiao;Zhang, Hongxin;Anur, Pavana;Peto, Myron;Spellman, Paul;Benz, Christopher;Stuart, Joshua M.;Wong, Christopher K.;Yau, Christina;Hayes, D. Neil;Parker, null;Wilkerson, Matthew D.;Ally, Adrian;Balasundaram, Miruna;Bowlby, Reanne;Brooks, Denise;Carlsen, Rebecca;Chuah, Eric;Dhalla, Noreen;Holt, Robert;Jones, Steven J. M.;Kasaian, Katayoon;Lee, Darlene;Ma, Yussanne;Marra, Marco A.;Mayo, Michael;Moore, Richard A.;Mungall, Andrew J.;Mungall, Karen;Robertson, A. Gordon;Sadeghi, Sara;Schein, Jacqueline E.;Sipahimalani, Payal;Tam, Angela;Thiessen, Nina;Tse, Kane;Wong, Tina;Berger, Ashton C.;Beroukhim, Rameen;Cherniack, Andrew D.;Cibulskis, Carrie;Gabriel, Stacey B.;Gao, Galen F.;Ha, Gavin;Meyerson, Matthew;Schumacher, Steven E.;Shih, Juliann;Kucherlapati, Melanie H.;Kucherlapati, Raju S.;Baylin, Stephen;Cope, Leslie;Danilova, Ludmila;Bootwalla, Moiz S.;Lai, Phillip H.;Maglinte, Dennis T.;Van Den Berg, David J.;Weisenberger, Daniel J.;Auman, J. Todd;Balu, Saianand;Bodenheimer, Tom;Fan, Cheng;Hoadley, Katherine A.;Hoyle, Alan P.;Jefferys, Stuart R.;Jones, Corbin D.;Meng, Shaowu;Mieczkowski, Piotr A.;Mose, Lisle E.;Perou, Amy H.;Perou, Charles M.;Roach, Jeffrey;Shi, Yan;Simons, Janae V.;Skelly, Tara;Soloway, Matthew G.;Tan, Donghui;Veluvolu, Umadevi;Fan, Huihui;Hinoue, Toshinori;Laird, Peter W.;Shen, Hui;Zhou, Wanding;Bellair, Michelle;Chang, Kyle;Covington, Kyle;Creighton, Chad J.;Dinh, Huyen;Doddapaneni, HarshaVardhan;Donehower, Lawrence A.;Drummond, Jennifer;Gibbs, Richard A.;Glenn, Robert;Hale, Walker;Han, Yi;Hu, Jianhong;Korchina, Viktoriya;Lee, Sandra;Lewis, Lora;Li, Wei;Liu, Xiuping;Morgan, Margaret;Morton, Donna;Muzny, Donna;Santibanez, Jireh;Sheth, Margi;Shinbrot, Eve;Wang, Linghua;Wang, Min;Wheeler, David A.;Xi, Liu;Zhao, Fengmei;Hess, Julian;Appelbaum, Elizabeth L.;Bailey, Matthew;Cordes, Matthew G.;Ding, Li;Fronick, Catrina C.;Fulton, Lucinda A.;Fulton, Robert S.;Kandoth, Cyriac;Mardis, Elaine R.;McLellan, Michael D.;Miller, Christopher A.;Schmidt, Heather K.;Wilson, Richard K.;Crain, Daniel;Curley, Erin;Gardner, Johanna;Lau, Kevin;Mallery, David;Morris, Scott;Paulauskis, Joseph;Penny, Robert;Shelton, Candace;Shelton, Troy;Sherman, Mark;Thompson, Eric;Yena, Peggy;Bowen, Jay;Gastier-Foster, Julie M.;Gerken, Mark;Leraas, Kristen M.;Lichtenberg, Tara M.;Ramirez, Nilsa C.;Wise, Lisa;Zmuda, Erik;Corcoran, Niall;Costello, Tony;Hovens, Christopher;Carvalho, Andre L.;de Carvalho, Ana C.;Fregnani, José H.;Longatto-Filho, Adhemar;Reis, Rui M.;Scapulatempo-Neto, Cristovam;Silveira, Henrique C. S.;Vidal, Daniel O.;Burnette, Andrew;Eschbacher, Jennifer;Hermes, Beth;Noss, Ardene;Singh, Rosy;Anderson, Matthew L.;Castro, Patricia D.;Ittmann, Michael;Huntsman, David;Kohl, Bernard;Le, Xuan;Thorp, Richard;Andry, Chris;Duffy, Elizabeth R.;Lyadov, Vladimir;Paklina, Oxana;Setdikova, Galiya;Shabunin, Alexey;Tavobilov, Mikhail;McPherson, Christopher;Warnick, Ronald;Berkowitz, Ross;Cramer, Daniel;Feltmate, Colleen;Horowitz, Neil;Kibel, Adam;Muto, Michael;Raut, Chandrajit P.;Malykh, Andrei;Barnholtz-Sloan, Jill S.;Barrett, Wendi;Devine, Karen;Fulop, Jordonna;Ostrom, Quinn T.;Shimmel, Kristen;Wolinsky, Yingli;Sloan, Andrew E.;De Rose, Agostino;Giuliante, Felice;Goodman, Marc;Karlan, Beth Y.;Hagedorn, Curt H.;Eckman, John;Harr, Jodi;Myers, Jerome;Tucker, Kelinda;Zach, Leigh Anne;Deyarmin, Brenda;Hu, Hai;Kvecher, Leonid;Larson, Caroline;Mural, Richard J.;Somiari, Stella;Vicha, Ales;Zelinka, Tomas;Bennett, Joseph;Iacocca, Mary;Rabeno, Brenda;Swanson, Patricia;Latour, Mathieu;Lacombe, Louis;Têtu, Bernard;Bergeron, Alain;McGraw, Mary;Staugaitis, Susan M.;Chabot, John;Hibshoosh, Hanina;Sepulveda, Antonia;Su, Tao;Wang, Timothy;Potapova, Olga;Voronina, Olga;Desjardins, Laurence;Mariani, Odette;Roman-Roman, Sergio;Sastre, Xavier;Stern, Marc-Henri;Cheng, Feixiong;Signoretti, Sabina;Berchuck, Andrew;Bigner, Darell;Lipp, Eric;Marks, Jeffrey;McCall, Shannon;McLendon, Roger;Secord, Angeles;Sharp, Alexis;Behera, Madhusmita;Brat, Daniel J.;Chen, Amy;Delman, Keith;Force, Seth;Khuri, Fadlo;Magliocca, Kelly;Maithel, Shishir;Olson, Jeffrey J.;Owonikoko, Taofeek;Pickens, Alan;Ramalingam, Suresh;Shin, Dong M.;Sica, Gabriel;Van Meir, Erwin G.;Zhang, Hongzheng;Eijckenboom, Wil;Gillis, Ad;Korpershoek, Esther;Looijenga, Leendert;Oosterhuis, Wolter;Stoop, Hans;van Kessel, Kim E.;Zwarthoff, Ellen C.;Calatozzolo, Chiara;Cuppini, Lucia;Cuzzubbo, Stefania;DiMeco, Francesco;Finocchiaro, Gaetano;Mattei, Luca;Perin, Alessandro;Pollo, Bianca;Chen, Chu;Houck, John;Lohavanichbutr, Pawadee;Hartmann, Arndt;Stoehr, Christine;Stoehr, Robert;Taubert, Helge;Wach, Sven;Wullich, Bernd;Kycler, Witold;Murawa, Dawid;Wiznerowicz, Maciej;Chung, Ki;Edenfield, W. Jeffrey;Martin, Julie;Baudin, Eric;Bubley, Glenn;Bueno, Raphael;De Rienzo, Assunta;Richards, William G.;Kalkanis, Steven;Mikkelsen, Tom;Noushmehr, Houtan;Scarpace, Lisa;Girard, Nicolas;Aymerich, Marta;Campo, Elias;Giné, Eva;Guillermo, Armando López;Van Bang, Nguyen;Hanh, Phan Thi;Phu, Bui Duc;Tang, Yufang;Colman, Howard;Evason, Kimberley;Dottino, Peter R.;Martignetti, John A.;Gabra, Hani;Juhl, Hartmut;Akeredolu, Teniola;Stepa, Serghei;Hoon, Dave;Ahn, Keunsoo;Kang, Koo Jeong;Beuschlein, Felix;Breggia, Anne;Birrer, Michael;Bell, Debra;Borad, Mitesh;Bryce, Alan H.;Castle, Erik;Chandan, Vishal;Cheville, John;Copland, John A.;Farnell, Michael;Flotte, Thomas;Giama, Nasra;Ho, Thai;Kendrick, Michael;Kocher, Jean-Pierre;Kopp, Karla;Moser, Catherine;Nagorney, David;O'Brien, Daniel;O'Neill, Brian Patrick;Patel, Tushar;Petersen, Gloria;Que, Florencia;Rivera, Michael;Roberts, Lewis;Smallridge, Robert;Smyrk, Thomas;Stanton, Melissa;Thompson, R. Houston;Torbenson, Michael;Yang, Ju Dong;Zhang, Lizhi;Brimo, Fadi;Ajani, Jaffer A.;Angulo Gonzalez, Ana Maria;Behrens, Carmen;Bondaruk, Jolanta;Broaddus, Russell;Czerniak, Bogdan;Esmaeli, Bita;Fujimoto, Junya;Gershenwald, Jeffrey;Guo, Charles;Lazar, Alexander J.;Logothetis, Christopher;Meric-Bernstam, Funda;Moran, Cesar;Ramondetta, Lois;Rice, David;Sood, Anil;Tamboli, Pheroze;Thompson, Timothy;Troncoso, Patricia;Tsao, Anne;Wistuba, Ignacio;Carter, Candace;Haydu, Lauren;Hersey, Peter;Jakrot, Valerie;Kakavand, Hojabr;Kefford, Richard;Lee, Kenneth;Long, Georgina;Mann, Graham;Quinn, Michael;Saw, Robyn;Scolyer, Richard;Shannon, Kerwin;Spillane, Andrew;Stretch, Jonathan;Synott, Maria;Thompson, John;Wilmott, James;Al-Ahmadie, Hikmat;Chan, Timothy A.;Ghossein, Ronald;Gopalan, Anuradha;Levine, Douglas A.;Reuter, Victor;Singer, Samuel;Singh, Bhuvanesh;Tien, Nguyen Viet;Broudy, Thomas;Mirsaidi, Cyrus;Nair, Praveen;Drwiega, Paul;Miller, Judy;Smith, Jennifer;Zaren, Howard;Park, Joong-Won;Hung, Nguyen Phi;Kebebew, Electron;Linehan, W. Marston;Metwalli, Adam R.;Pacak, Karel;Pinto, Peter A.;Schiffman, Mark;Schmidt, Laura S.;Vocke, Cathy D.;Wentzensen, Nicolas;Worrell, Robert;Yang, Hannah;Moncrieff, Marc;Goparaju, Chandra;Melamed, Jonathan;Pass, Harvey;Botnariuc, Natalia;Caraman, Irina;Cernat, Mircea;Chemencedji, Inga;Clipca, Adrian;Doruc, Serghei;Gorincioi, Ghenadie;Mura, Sergiu;Pirtac, Maria;Stancul, Irina;Tcaciuc, Diana;Albert, Monique;Alexopoulou, Iakovina;Arnaout, Angel;Bartlett, John;Engel, Jay;Gilbert, Sebastien;Parfitt, Jeremy;Sekhon, Harman;Thomas, George;Rassl, Doris M.;Rintoul, Robert C.;Bifulco, Carlo;Tamakawa, Raina;Urba, Walter;Hayward, Nicholas;Timmers, Henri;Antenucci, Anna;Facciolo, Francesco;Grazi, Gianluca;Marino, Mirella;Merola, Roberta;de Krijger, Ronald;Gimenez-Roqueplo, Anne-Paule;Piché, Alain;Chevalier, Simone;McKercher, Ginette;Birsoy, Kivanc;Barnett, Gene;Brewer, Cathy;Farver, Carol;Naska, Theresa;Pennell, Nathan A.;Raymond, Daniel;Schilero, Cathy;Smolenski, Kathy;Williams, Felicia;Morrison, Carl;Borgia, Jeffrey A.;Liptay, Michael J.;Pool, Mark;Seder, Christopher W.;Junker, Kerstin;Omberg, Larsson;Dinkin, Mikhail;Manikhas, George;Alvaro, Domenico;Bragazzi, Maria Consiglia;Cardinale, Vincenzo;Carpino, Guido;Gaudio, Eugenio;Chesla, David;Cottingham, Sandra;Dubina, Michael;Moiseenko, Fedor;Dhanasekaran, Renumathy;Becker, Karl-Friedrich;Janssen, Klaus-Peter;Slotta-Huspenina, Julia;Abdel-Rahman, Mohamed H.;Aziz, Dina;Bell, Sue;Cebulla, Colleen M.;Davis, Amy;Duell, Rebecca;Elder, J. Bradley;Hilty, Joe;Kumar, Bahavna;Lang, James;Lehman, Norman L.;Mandt, Randy;Nguyen, Phuong;Pilarski, Robert;Rai, Karan;Schoenfield, Lynn;Senecal, Kelly;Wakely, Paul;Hansen, Paul;Lechan, Ronald;Powers, James;Tischler, Arthur;Grizzle, William E.;Sexton, Katherine C.;Kastl, Alison;Henderson, Joel;Porten, Sima;Waldmann, Jens;Fassnacht, Martin;Asa, Sylvia L.;Schadendorf, Dirk;Couce, Marta;Graefen, Markus;Huland, Hartwig;Sauter, Guido;Schlomm, Thorsten;Simon, Ronald;Tennstedt, Pierre;Olabode, Oluwole;Nelson, Mark;Bathe, Oliver;Carroll, Peter R.;Chan, June M.;Disaia, Philip;Glenn, Pat;Kelley, Robin K.;Landen, Charles N.;Phillips, Joanna;Prados, Michael;Simko, Jeffry;Smith-McCune, Karen;VandenBerg, Scott;Roggin, Kevin;Fehrenbach, Ashley;Kendler, Ady;Sifri, Suzanne;Steele, Ruth;Jimeno, Antonio;Carey, Francis;Forgie, Ian;Mannelli, Massimo;Carney, Michael;Hernandez, Brenda;Campos, Benito;Herold-Mende, Christel;Jungk, Christin;Unterberg, Andreas;von Deimling, Andreas;Bossler, Aaron;Galbraith, Joseph;Jacobus, Laura;Knudson, Michael;Knutson, Tina;Ma, Deqin;Milhem, Mohammed;Sigmund, Rita;Godwin, Andrew K.;Madan, Rashna;Rosenthal, Howard G.;Adebamowo, Clement;Adebamowo, Sally N.;Boussioutas, Alex;Beer, David;Giordano, Thomas;Mes-Masson, Anne-Marie;Saad, Fred;Bocklage, Therese;Landrum, Lisa;Mannel, Robert;Moore, Kathleen;Moxley, Katherine;Postier, Russel;Walker, Joan;Zuna, Rosemary;Feldman, Michael;Valdivieso, Federico;Dhir, Rajiv;Luketich, James;Mora Pinero, Edna M.;Quintero-Aguilo, Mario;Carlotti, Carlos Gilberto;Dos Santos, Jose Sebastião;Kemp, Rafael;Sankarankuty, Ajith;Tirapelli, Daniela;Catto, James;Agnew, Kathy;Swisher, Elizabeth;Creaney, Jenette;Robinson, Bruce;Shelley, Carl Simon;Godwin, Eryn M.;Kendall, Sara;Shipman, Cassaundra;Bradford, Carol;Carey, Thomas;Haddad, Andrea;Moyer, Jeffey;Peterson, Lisa;Prince, Mark;Rozek, Laura;Wolf, Gregory;Bowman, Rayleen;Fong, Kwun M.;Yang, Ian;Korst, Robert;Rathmell, W. Kimryn;Fantacone-Campbell, J. Leigh;Hooke, Jeffrey A.;Kovatich, Albert J.;Shriver, Craig D.;DiPersio, John;Drake, Bettina;Govindan, Ramaswamy;Heath, Sharon;Ley, Timothy;Van Tine, Brian;Westervelt, Peter;Rubin, Mark A.;Lee, Jung Il;Aredes, Natália D.;Mariamidze, Armaz
2018
Abstract
The Cancer Genome Atlas (TCGA) cancer genomicsdataset includes over 10,000 tumor-normal exomepairs across 33 different cancer types, in total >400TB of raw data files requiring analysis. Here wedescribe the Multi-Center Mutation Calling in Multi-ple Cancers project, our effort to generate a compre-hensive encyclopedia of somatic mutation calls forthe TCGA data to enable robust cross-tumor-typeanalyses. Our approach accounts for varianceand batch effects introduced by the rapid advance-ment of DNA extraction, hybridization-capture,sequencing, and analysis methods over time. Wepresent best practices for applying an ensemble ofseven mutation-calling algorithms with scoring andartifact filtering. The dataset created by this analysisincludes 3.5 million somatic variants and forms thebasis for PanCan Atlas papers. The results havebeen made available to the research communityalong with the methods used to generate them.This project is the result of collaboration from a num-ber of institutes and demonstrates how team sciencedrives extremely large genomics projects.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1106368
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simulazione ASN
Il report seguente simula gli indicatori relativi alla propria produzione scientifica in relazione alle soglie ASN 2023-2025 del proprio SC/SSD. Si ricorda che il superamento dei valori soglia (almeno 2 su 3) è requisito necessario ma non sufficiente al conseguimento dell'abilitazione. La simulazione si basa sui dati IRIS e sugli indicatori bibliometrici alla data indicata e non tiene conto di eventuali periodi di congedo obbligatorio, che in sede di domanda ASN danno diritto a incrementi percentuali dei valori. La simulazione può differire dall'esito di un’eventuale domanda ASN sia per errori di catalogazione e/o dati mancanti in IRIS, sia per la variabilità dei dati bibliometrici nel tempo. Si consideri che Anvur calcola i valori degli indicatori all'ultima data utile per la presentazione delle domande.
La presente simulazione è stata realizzata sulla base delle specifiche raccolte sul tavolo ER del Focus Group IRIS coordinato dall’Università di Modena e Reggio Emilia e delle regole riportate nel DM 589/2018 e allegata Tabella A. Cineca, l’Università di Modena e Reggio Emilia e il Focus Group IRIS non si assumono alcuna responsabilità in merito all’uso che il diretto interessato o terzi faranno della simulazione. Si specifica inoltre che la simulazione contiene calcoli effettuati con dati e algoritmi di pubblico dominio e deve quindi essere considerata come un mero ausilio al calcolo svolgibile manualmente o con strumenti equivalenti.