Systematic Analysis of Splice-Site-Creating Mutations in Cancer
Abstract
For the past decade, cancer genomic studies have focused on mutations leading to splice-site disruption, overlooking those having splice-creating potential. Here, we applied a bioinformatic tool, MiSplice, for the large-scale discovery of splice-site-creating mutations (SCMs) across 8,656 TCGA tumors. We report 1,964 originally mis-annotated mutations having clear evidence of creating alternative splice junctions. TP53 and GATA3 have 26 and 18 SCMs, respectively, and ATRX has 5 from lower-grade gliomas. Mutations in 11 genes, including PARP1, BRCA1, and BAP1, were experimentally validated for splice-site-creating function. Notably, we found that neoantigens induced by SCMs are likely several folds more immunogenic compared to missense mutations, exemplified by the recurrent GATA3 SCM. Further, high expression of PD-1 and PD-L1 was observed in tumors with SCMs, suggesting candidates for immune blockade therapy. Finally, our work highlights the importance of integrating DNA and RNA data for understanding the functional and the clinical implications of mutations in human diseases.
- Authors:
-
more »
- (Julia)
- Publication Date:
- Research Org.:
- Pacific Northwest National Lab. (PNNL), Richland, WA (United States)
- Sponsoring Org.:
- USDOE
- Contributing Org.:
- The Cancer Genome Atlas Research Network
- OSTI Identifier:
- 1433509
- Report Number(s):
- PNNL-SA-135533
Journal ID: ISSN 2211-1247; PII: S2211124718303978
- Grant/Contract Number:
- AC05-76RL01830
- Resource Type:
- Accepted Manuscript
- Journal Name:
- Cell Reports
- Additional Journal Information:
- Journal Volume: 23; Journal Issue: 1; Journal ID: ISSN 2211-1247
- Publisher:
- Elsevier
- Country of Publication:
- United States
- Language:
- English
- Subject:
- 59 BASIC BIOLOGICAL SCIENCES; splicing; RNA; mutations of clinical relevance
Citation Formats
Jayasinghe, Reyka G., Cao, Song, Gao, Qingsong, Wendl, Michael C., Vo, Nam Sy, Reynolds, Sheila M., Zhao, Yanyan, Climente-González, Héctor, Chai, Shengjie, Wang, Fang, Varghese, Rajees, Huang, Mo, Liang, Wen-Wei, Wyczalkowski, Matthew A., Sengupta, Sohini, Li, Zhi, Payne, Samuel H., Fenyö, David, Miner, Jeffrey H., Walter, Matthew J., Vincent, Benjamin, Eyras, Eduardo, Chen, Ken, Shmulevich, Ilya, Chen, Feng, 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, 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, Joel S., 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., Gonzalez, Ana Maria Angulo, 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, Pinero, Edna M. Mora, 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., and Mariamidze, Armaz. Systematic Analysis of Splice-Site-Creating Mutations in Cancer. United States: N. p., 2018.
Web. doi:10.1016/J.CELREP.2018.03.052.
Jayasinghe, Reyka G., Cao, Song, Gao, Qingsong, Wendl, Michael C., Vo, Nam Sy, Reynolds, Sheila M., Zhao, Yanyan, Climente-González, Héctor, Chai, Shengjie, Wang, Fang, Varghese, Rajees, Huang, Mo, Liang, Wen-Wei, Wyczalkowski, Matthew A., Sengupta, Sohini, Li, Zhi, Payne, Samuel H., Fenyö, David, Miner, Jeffrey H., Walter, Matthew J., Vincent, Benjamin, Eyras, Eduardo, Chen, Ken, Shmulevich, Ilya, Chen, Feng, 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, 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, Joel S., 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., Gonzalez, Ana Maria Angulo, 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, Pinero, Edna M. Mora, 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. Systematic Analysis of Splice-Site-Creating Mutations in Cancer. United States. https://doi.org/10.1016/J.CELREP.2018.03.052
Jayasinghe, Reyka G., Cao, Song, Gao, Qingsong, Wendl, Michael C., Vo, Nam Sy, Reynolds, Sheila M., Zhao, Yanyan, Climente-González, Héctor, Chai, Shengjie, Wang, Fang, Varghese, Rajees, Huang, Mo, Liang, Wen-Wei, Wyczalkowski, Matthew A., Sengupta, Sohini, Li, Zhi, Payne, Samuel H., Fenyö, David, Miner, Jeffrey H., Walter, Matthew J., Vincent, Benjamin, Eyras, Eduardo, Chen, Ken, Shmulevich, Ilya, Chen, Feng, 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, 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, Joel S., 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., Gonzalez, Ana Maria Angulo, 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, Pinero, Edna M. Mora, 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., and Mariamidze, Armaz. Thu .
"Systematic Analysis of Splice-Site-Creating Mutations in Cancer". United States. https://doi.org/10.1016/J.CELREP.2018.03.052. https://www.osti.gov/servlets/purl/1433509.
@article{osti_1433509,
title = {Systematic Analysis of Splice-Site-Creating Mutations in Cancer},
author = {Jayasinghe, Reyka G. and Cao, Song and Gao, Qingsong and Wendl, Michael C. and Vo, Nam Sy and Reynolds, Sheila M. and Zhao, Yanyan and Climente-González, Héctor and Chai, Shengjie and Wang, Fang and Varghese, Rajees and Huang, Mo and Liang, Wen-Wei and Wyczalkowski, Matthew A. and Sengupta, Sohini and Li, Zhi and Payne, Samuel H. and Fenyö, David and Miner, Jeffrey H. and Walter, Matthew J. and Vincent, Benjamin and Eyras, Eduardo and Chen, Ken and Shmulevich, Ilya and Chen, Feng and Ding, Li and Caesar-Johnson, Samantha J. and Demchok, John A. and Felau, Ina and Kasapi, Melpomeni and Ferguson, Martin L. and Hutter, Carolyn M. and Sofia, Heidi J. and Tarnuzzer, Roy and Wang, Zhining and Yang, Liming and Zenklusen, Jean C. and Zhang, Jiashan and Chudamani, Sudha and Liu, Jia and Lolla, Laxmi and Naresh, Rashi and Pihl, Todd and Sun, Qiang and Wan, Yunhu and Wu, Ye and Cho, Juok and DeFreitas, Timothy and Frazer, Scott and Gehlenborg, Nils and Getz, Gad and Heiman, David I. and Kim, Jaegil and Lawrence, Michael S. and Lin, Pei and Meier, Sam and Noble, Michael S. and Saksena, Gordon and Voet, Doug and Zhang, Hailei and Bernard, Brady and Chambwe, Nyasha and Dhankani, Varsha and Knijnenburg, Theo and Kramer, Roger and Leinonen, Kalle and Liu, Yuexin and Miller, Michael and Reynolds, Sheila and Shmulevich, Ilya and Thorsson, Vesteinn and Zhang, Wei and Akbani, Rehan and Broom, Bradley M. and Hegde, Apurva M. and Ju, Zhenlin and Kanchi, Rupa S. and Korkut, Anil and Li, Jun and Liang, Han and Ling, Shiyun and Liu, Wenbin and Lu, Yiling and Mills, Gordon B. and Ng, Kwok-Shing and Rao, Arvind and Ryan, Michael and Wang, Jing and Weinstein, John N. and Zhang, Jiexin and Abeshouse, Adam and Armenia, Joshua and Chakravarty, Debyani and Chatila, Walid K. and de Bruijn, Ino and Gao, Jianjiong and Gross, Benjamin E. and Heins, Zachary J. and Kundra, Ritika and La, Konnor and Ladanyi, Marc and Luna, Augustin and Nissan, Moriah G. and Ochoa, Angelica and Phillips, Sarah M. and Reznik, Ed and Sanchez-Vega, Francisco and Sander, Chris and Schultz, Nikolaus and Sheridan, Robert and Sumer, S. Onur and Sun, Yichao and Taylor, Barry S. and Wang, Jioajiao and Zhang, Hongxin and Anur, Pavana and Peto, Myron and Spellman, Paul and Benz, Christopher and Stuart, Joshua M. and Wong, Christopher K. and Yau, Christina and Hayes, D. Neil and Parker, Joel S. and Wilkerson, Matthew D. and Ally, Adrian and Balasundaram, Miruna and Bowlby, Reanne and Brooks, Denise and Carlsen, Rebecca and Chuah, Eric and Dhalla, Noreen and Holt, Robert and Jones, Steven J. M. and Kasaian, Katayoon and Lee, Darlene and Ma, Yussanne and Marra, Marco A. and Mayo, Michael and Moore, Richard A. and Mungall, Andrew J. and Mungall, Karen and Robertson, A. Gordon and Sadeghi, Sara and Schein, Jacqueline E. and Sipahimalani, Payal and Tam, Angela and Thiessen, Nina and Tse, Kane and Wong, Tina and Berger, Ashton C. and Beroukhim, Rameen and Cherniack, Andrew D. and Cibulskis, Carrie and Gabriel, Stacey B. and Gao, Galen F. and Ha, Gavin and Meyerson, Matthew and Schumacher, Steven E. and Shih, Juliann and Kucherlapati, Melanie H. and Kucherlapati, Raju S. and Baylin, Stephen and Cope, Leslie and Danilova, Ludmila and Bootwalla, Moiz S. and Lai, Phillip H. and Maglinte, Dennis T. and Van Den Berg, David J. and Weisenberger, Daniel J. and Auman, J. Todd and Balu, Saianand and Bodenheimer, Tom and Fan, Cheng and Hoadley, Katherine A. and Hoyle, Alan P. and Jefferys, Stuart R. and Jones, Corbin D. and Meng, Shaowu and Mieczkowski, Piotr A. and Mose, Lisle E. and Perou, Amy H. and Perou, Charles M. and Roach, Jeffrey and Shi, Yan and Simons, Janae V. and Skelly, Tara and Soloway, Matthew G. and Tan, Donghui and Veluvolu, Umadevi and Fan, Huihui and Hinoue, Toshinori and Laird, Peter W. and Shen, Hui and Zhou, Wanding and Bellair, Michelle and Chang, Kyle and Covington, Kyle and Creighton, Chad J. and Dinh, Huyen and Doddapaneni, HarshaVardhan and Donehower, Lawrence A. and Drummond, Jennifer and Gibbs, Richard A. and Glenn, Robert and Hale, Walker and Han, Yi and Hu, Jianhong and Korchina, Viktoriya and Lee, Sandra and Lewis, Lora and Li, Wei and Liu, Xiuping and Morgan, Margaret and Morton, Donna and Muzny, Donna and Santibanez, Jireh and Sheth, Margi and Shinbrot, Eve and Wang, Linghua and Wang, Min and Wheeler, David A. and Xi, Liu and Zhao, Fengmei and Hess, Julian and Appelbaum, Elizabeth L. and Bailey, Matthew and Cordes, Matthew G. and Ding, Li and Fronick, Catrina C. and Fulton, Lucinda A. and Fulton, Robert S. and Kandoth, Cyriac and Mardis, Elaine R. and McLellan, Michael D. and Miller, Christopher A. and Schmidt, Heather K. and Wilson, Richard K. and Crain, Daniel and Curley, Erin and Gardner, Johanna and Lau, Kevin and Mallery, David and Morris, Scott and Paulauskis, Joseph and Penny, Robert and Shelton, Candace and Shelton, Troy and Sherman, Mark and Thompson, Eric and Yena, Peggy and Bowen, Jay and Gastier-Foster, Julie M. and Gerken, Mark and Leraas, Kristen M. and Lichtenberg, Tara M. and Ramirez, Nilsa C. and Wise, Lisa and Zmuda, Erik and Corcoran, Niall and Costello, Tony and Hovens, Christopher and Carvalho, Andre L. and de Carvalho, Ana C. and Fregnani, José H. and Longatto-Filho, Adhemar and Reis, Rui M. and Scapulatempo-Neto, Cristovam and Silveira, Henrique C. S. and Vidal, Daniel O. and Burnette, Andrew and Eschbacher, Jennifer and Hermes, Beth and Noss, Ardene and Singh, Rosy and Anderson, Matthew L. and Castro, Patricia D. and Ittmann, Michael and Huntsman, David and Kohl, Bernard and Le, Xuan and Thorp, Richard and Andry, Chris and Duffy, Elizabeth R. and Lyadov, Vladimir and Paklina, Oxana and Setdikova, Galiya and Shabunin, Alexey and Tavobilov, Mikhail and McPherson, Christopher and Warnick, Ronald and Berkowitz, Ross and Cramer, Daniel and Feltmate, Colleen and Horowitz, Neil and Kibel, Adam and Muto, Michael and Raut, Chandrajit P. and Malykh, Andrei and Barnholtz-Sloan, Jill S. and Barrett, Wendi and Devine, Karen and Fulop, Jordonna and Ostrom, Quinn T. and Shimmel, Kristen and Wolinsky, Yingli and Sloan, Andrew E. and De Rose, Agostino and Giuliante, Felice and Goodman, Marc and Karlan, Beth Y. and Hagedorn, Curt H. and Eckman, John and Harr, Jodi and Myers, Jerome and Tucker, Kelinda and Zach, Leigh Anne and Deyarmin, Brenda and Hu, Hai and Kvecher, Leonid and Larson, Caroline and Mural, Richard J. and Somiari, Stella and Vicha, Ales and Zelinka, Tomas and Bennett, Joseph and Iacocca, Mary and Rabeno, Brenda and Swanson, Patricia and Latour, Mathieu and Lacombe, Louis and Têtu, Bernard and Bergeron, Alain and McGraw, Mary and Staugaitis, Susan M. and Chabot, John and Hibshoosh, Hanina and Sepulveda, Antonia and Su, Tao and Wang, Timothy and Potapova, Olga and Voronina, Olga and Desjardins, Laurence and Mariani, Odette and Roman-Roman, Sergio and Sastre, Xavier and Stern, Marc-Henri and Cheng, Feixiong and Signoretti, Sabina and Berchuck, Andrew and Bigner, Darell and Lipp, Eric and Marks, Jeffrey and McCall, Shannon and McLendon, Roger and Secord, Angeles and Sharp, Alexis and Behera, Madhusmita and Brat, Daniel J. and Chen, Amy and Delman, Keith and Force, Seth and Khuri, Fadlo and Magliocca, Kelly and Maithel, Shishir and Olson, Jeffrey J. and Owonikoko, Taofeek and Pickens, Alan and Ramalingam, Suresh and Shin, Dong M. and Sica, Gabriel and Van Meir, Erwin G. and Zhang, Hongzheng and Eijckenboom, Wil and Gillis, Ad and Korpershoek, Esther and Looijenga, Leendert and Oosterhuis, Wolter and Stoop, Hans and van Kessel, Kim E. and Zwarthoff, Ellen C. and Calatozzolo, Chiara and Cuppini, Lucia and Cuzzubbo, Stefania and DiMeco, Francesco and Finocchiaro, Gaetano and Mattei, Luca and Perin, Alessandro and Pollo, Bianca and Chen, Chu and Houck, John and Lohavanichbutr, Pawadee and Hartmann, Arndt and Stoehr, Christine and Stoehr, Robert and Taubert, Helge and Wach, Sven and Wullich, Bernd and Kycler, Witold and Murawa, Dawid and Wiznerowicz, Maciej and Chung, Ki and Edenfield, W. Jeffrey and Martin, Julie and Baudin, Eric and Bubley, Glenn and Bueno, Raphael and De Rienzo, Assunta and Richards, William G. and Kalkanis, Steven and Mikkelsen, Tom and Noushmehr, Houtan and Scarpace, Lisa and Girard, Nicolas and Aymerich, Marta and Campo, Elias and Giné, Eva and Guillermo, Armando López and Van Bang, Nguyen and Hanh, Phan Thi and Phu, Bui Duc and Tang, Yufang and Colman, Howard and Evason, Kimberley and Dottino, Peter R. and Martignetti, John A. and Gabra, Hani and Juhl, Hartmut and Akeredolu, Teniola and Stepa, Serghei and Hoon, Dave and Ahn, Keunsoo and Kang, Koo Jeong and Beuschlein, Felix and Breggia, Anne and Birrer, Michael and Bell, Debra and Borad, Mitesh and Bryce, Alan H. and Castle, Erik and Chandan, Vishal and Cheville, John and Copland, John A. and Farnell, Michael and Flotte, Thomas and Giama, Nasra and Ho, Thai and Kendrick, Michael and Kocher, Jean-Pierre and Kopp, Karla and Moser, Catherine and Nagorney, David and O’Brien, Daniel and O’Neill, Brian Patrick and Patel, Tushar and Petersen, Gloria and Que, Florencia and Rivera, Michael and Roberts, Lewis and Smallridge, Robert and Smyrk, Thomas and Stanton, Melissa and Thompson, R. Houston and Torbenson, Michael and Yang, Ju Dong and Zhang, Lizhi and Brimo, Fadi and Ajani, Jaffer A. and Gonzalez, Ana Maria Angulo and Behrens, Carmen and Bondaruk, Jolanta and Broaddus, Russell and Czerniak, Bogdan and Esmaeli, Bita and Fujimoto, Junya and Gershenwald, Jeffrey and Guo, Charles and Lazar, Alexander J. and Logothetis, Christopher and Meric-Bernstam, Funda and Moran, Cesar and Ramondetta, Lois and Rice, David and Sood, Anil and Tamboli, Pheroze and Thompson, Timothy and Troncoso, Patricia and Tsao, Anne and Wistuba, Ignacio and Carter, Candace and Haydu, Lauren and Hersey, Peter and Jakrot, Valerie and Kakavand, Hojabr and Kefford, Richard and Lee, Kenneth and Long, Georgina and Mann, Graham and Quinn, Michael and Saw, Robyn and Scolyer, Richard and Shannon, Kerwin and Spillane, Andrew and Stretch, Jonathan and Synott, Maria and Thompson, John and Wilmott, James and Al-Ahmadie, Hikmat and Chan, Timothy A. and Ghossein, Ronald and Gopalan, Anuradha and Levine, Douglas A. and Reuter, Victor and Singer, Samuel and Singh, Bhuvanesh and Tien, Nguyen Viet and Broudy, Thomas and Mirsaidi, Cyrus and Nair, Praveen and Drwiega, Paul and Miller, Judy and Smith, Jennifer and Zaren, Howard and Park, Joong-Won and Hung, Nguyen Phi and Kebebew, Electron and Linehan, W. Marston and Metwalli, Adam R. and Pacak, Karel and Pinto, Peter A. and Schiffman, Mark and Schmidt, Laura S. and Vocke, Cathy D. and Wentzensen, Nicolas and Worrell, Robert and Yang, Hannah and Moncrieff, Marc and Goparaju, Chandra and Melamed, Jonathan and Pass, Harvey and Botnariuc, Natalia and Caraman, Irina and Cernat, Mircea and Chemencedji, Inga and Clipca, Adrian and Doruc, Serghei and Gorincioi, Ghenadie and Mura, Sergiu and Pirtac, Maria and Stancul, Irina and Tcaciuc, Diana and Albert, Monique and Alexopoulou, Iakovina and Arnaout, Angel and Bartlett, John and Engel, Jay and Gilbert, Sebastien and Parfitt, Jeremy and Sekhon, Harman and Thomas, George and Rassl, Doris M. and Rintoul, Robert C. and Bifulco, Carlo and Tamakawa, Raina and Urba, Walter and Hayward, Nicholas and Timmers, Henri and Antenucci, Anna and Facciolo, Francesco and Grazi, Gianluca and Marino, Mirella and Merola, Roberta and de Krijger, Ronald and Gimenez-Roqueplo, Anne-Paule and Piché, Alain and Chevalier, Simone and McKercher, Ginette and Birsoy, Kivanc and Barnett, Gene and Brewer, Cathy and Farver, Carol and Naska, Theresa and Pennell, Nathan A. and Raymond, Daniel and Schilero, Cathy and Smolenski, Kathy and Williams, Felicia and Morrison, Carl and Borgia, Jeffrey A. and Liptay, Michael J. and Pool, Mark and Seder, Christopher W. and Junker, Kerstin and Omberg, Larsson and Dinkin, Mikhail and Manikhas, George and Alvaro, Domenico and Bragazzi, Maria Consiglia and Cardinale, Vincenzo and Carpino, Guido and Gaudio, Eugenio and Chesla, David and Cottingham, Sandra and Dubina, Michael and Moiseenko, Fedor and Dhanasekaran, Renumathy and Becker, Karl-Friedrich and Janssen, Klaus-Peter and Slotta-Huspenina, Julia and Abdel-Rahman, Mohamed H. and Aziz, Dina and Bell, Sue and Cebulla, Colleen M. and Davis, Amy and Duell, Rebecca and Elder, J. Bradley and Hilty, Joe and Kumar, Bahavna and Lang, James and Lehman, Norman L. and Mandt, Randy and Nguyen, Phuong and Pilarski, Robert and Rai, Karan and Schoenfield, Lynn and Senecal, Kelly and Wakely, Paul and Hansen, Paul and Lechan, Ronald and Powers, James and Tischler, Arthur and Grizzle, William E. and Sexton, Katherine C. and Kastl, Alison and Henderson, Joel and Porten, Sima and Waldmann, Jens and Fassnacht, Martin and Asa, Sylvia L. and Schadendorf, Dirk and Couce, Marta and Graefen, Markus and Huland, Hartwig and Sauter, Guido and Schlomm, Thorsten and Simon, Ronald and Tennstedt, Pierre and Olabode, Oluwole and Nelson, Mark and Bathe, Oliver and Carroll, Peter R. and Chan, June M. and Disaia, Philip and Glenn, Pat and Kelley, Robin K. and Landen, Charles N. and Phillips, Joanna and Prados, Michael and Simko, Jeffry and Smith-McCune, Karen and VandenBerg, Scott and Roggin, Kevin and Fehrenbach, Ashley and Kendler, Ady and Sifri, Suzanne and Steele, Ruth and Jimeno, Antonio and Carey, Francis and Forgie, Ian and Mannelli, Massimo and Carney, Michael and Hernandez, Brenda and Campos, Benito and Herold-Mende, Christel and Jungk, Christin and Unterberg, Andreas and von Deimling, Andreas and Bossler, Aaron and Galbraith, Joseph and Jacobus, Laura and Knudson, Michael and Knutson, Tina and Ma, Deqin and Milhem, Mohammed and Sigmund, Rita and Godwin, Andrew K. and Madan, Rashna and Rosenthal, Howard G. and Adebamowo, Clement and Adebamowo, Sally N. and Boussioutas, Alex and Beer, David and Giordano, Thomas and Mes-Masson, Anne-Marie and Saad, Fred and Bocklage, Therese and Landrum, Lisa and Mannel, Robert and Moore, Kathleen and Moxley, Katherine and Postier, Russel and Walker, Joan and Zuna, Rosemary and Feldman, Michael and Valdivieso, Federico and Dhir, Rajiv and Luketich, James and Pinero, Edna M. Mora and Quintero-Aguilo, Mario and Carlotti, Carlos Gilberto and Dos Santos, Jose Sebastião and Kemp, Rafael and Sankarankuty, Ajith and Tirapelli, Daniela and Catto, James and Agnew, Kathy and Swisher, Elizabeth and Creaney, Jenette and Robinson, Bruce and Shelley, Carl Simon and Godwin, Eryn M. and Kendall, Sara and Shipman, Cassaundra and Bradford, Carol and Carey, Thomas and Haddad, Andrea and Moyer, Jeffey and Peterson, Lisa and Prince, Mark and Rozek, Laura and Wolf, Gregory and Bowman, Rayleen and Fong, Kwun M. and Yang, Ian and Korst, Robert and Rathmell, W. Kimryn and Fantacone-Campbell, J. Leigh and Hooke, Jeffrey A. and Kovatich, Albert J. and Shriver, Craig D. and DiPersio, John and Drake, Bettina and Govindan, Ramaswamy and Heath, Sharon and Ley, Timothy and Van Tine, Brian and Westervelt, Peter and Rubin, Mark A. and Lee, Jung Il and Aredes, Natália D. and Mariamidze, Armaz},
abstractNote = {For the past decade, cancer genomic studies have focused on mutations leading to splice-site disruption, overlooking those having splice-creating potential. Here, we applied a bioinformatic tool, MiSplice, for the large-scale discovery of splice-site-creating mutations (SCMs) across 8,656 TCGA tumors. We report 1,964 originally mis-annotated mutations having clear evidence of creating alternative splice junctions. TP53 and GATA3 have 26 and 18 SCMs, respectively, and ATRX has 5 from lower-grade gliomas. Mutations in 11 genes, including PARP1, BRCA1, and BAP1, were experimentally validated for splice-site-creating function. Notably, we found that neoantigens induced by SCMs are likely several folds more immunogenic compared to missense mutations, exemplified by the recurrent GATA3 SCM. Further, high expression of PD-1 and PD-L1 was observed in tumors with SCMs, suggesting candidates for immune blockade therapy. Finally, our work highlights the importance of integrating DNA and RNA data for understanding the functional and the clinical implications of mutations in human diseases.},
doi = {10.1016/J.CELREP.2018.03.052},
journal = {Cell Reports},
number = 1,
volume = 23,
place = {United States},
year = {Thu Apr 05 00:00:00 EDT 2018},
month = {Thu Apr 05 00:00:00 EDT 2018}
}
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Figure 1: Splice-Site-Creating Mutation Discovery. (A) Examples of splice-site-creating mutations for different conventionally annotated mutation types. Splice-in is defined as mutations contained within the newly created exons, and splice-out is when the mutation is present in the newly created intron. (B) The MiSplice workflow consists of three steps: alternative junctionmore »
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Works referenced in this record:
Novel Mutations of the PARP-1 Gene Associated with Colorectal Cancer in the Saudi Population
journal, April 2014
- Alshammari, Atika Hazzaa; Shalaby, Manal Aly; Alanazi, Mohammad Saud
- Asian Pacific Journal of Cancer Prevention, Vol. 15, Issue 8
Gapped sequence alignment using artificial neural networks: application to the MHC class I system
journal, October 2015
- Andreatta, Massimo; Nielsen, Morten
- Bioinformatics, Vol. 32, Issue 4
Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene
journal, May 2008
- Bonnet, C.; Krieger, S.; Vezain, M.
- Journal of Medical Genetics, Vol. 45, Issue 7
IVS10–6T>G, an ancient ATM germline mutation linked with breast cancer
journal, May 2003
- Broeks, Annegien; Urbanus, Jos H. M.; Knijff, Peter de
- Human Mutation, Vol. 21, Issue 5
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis
journal, January 2014
- Caminsky, Natasha G.; Mucaki, Eliseos J.; Rogan, Peter K.
- F1000Research, Vol. 3
A dendritic cell vaccine increases the breadth and diversity of melanoma neoantigen-specific T cells
journal, April 2015
- Carreno, B. M.; Magrini, V.; Becker-Hapak, M.
- Science, Vol. 348, Issue 6236
A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors
journal, April 2005
- Chen, Lei L.; Sabripour, Mahyar; Wu, Elsie F.
- Oncogene, Vol. 24, Issue 26
Pathological exon skipping in an HNPCC proband withMLH1 splice acceptor site mutation
journal, January 2000
- Clarke, Luka A.; Veiga, Isabel; Isidro, Gloria
- Genes, Chromosomes and Cancer, Vol. 29, Issue 4
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes
journal, January 2010
- Dalgliesh, Gillian L.; Furge, Kyle; Greenman, Chris
- Nature, Vol. 463, Issue 7279
MuSiC: Identifying mutational significance in cancer genomes
journal, July 2012
- Dees, N. D.; Zhang, Q.; Kandoth, C.
- Genome Research, Vol. 22, Issue 8
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis
journal, January 2016
- Ferrer-Cortès, Xènia; Narbona, Juan; Bujan, Núria
- Mitochondrion, Vol. 26
In silico prediction of splice-altering single nucleotide variants in the human genome
journal, November 2014
- Jian, Xueqiu; Boerwinkle, Eric; Liu, Xiaoming
- Nucleic Acids Research, Vol. 42, Issue 22
Intron retention is a widespread mechanism of tumor-suppressor inactivation
journal, October 2015
- Jung, Hyunchul; Lee, Donghoon; Lee, Jongkeun
- Nature Genetics, Vol. 47, Issue 11
SplAdder : identification, quantification and testing of alternative splicing events from RNA-Seq data
journal, February 2016
- Kahles, André; Ong, Cheng Soon; Zhong, Yi
- Bioinformatics, Vol. 32, Issue 12
Mutational landscape and significance across 12 major cancer types
journal, October 2013
- Kandoth, Cyriac; McLellan, Michael D.; Vandin, Fabio
- Nature, Vol. 502, Issue 7471
ATRX loss promotes tumor growth and impairs nonhomologous end joining DNA repair in glioma
journal, March 2016
- Koschmann, Carl; Calinescu, Anda-Alexandra; Nunez, Felipe J.
- Science Translational Medicine, Vol. 8, Issue 328
Mutational heterogeneity in cancer and the search for new cancer-associated genes
journal, June 2013
- Lawrence, Michael S.; Stojanov, Petar; Polak, Paz
- Nature, Vol. 499, Issue 7457
The Sequence Alignment/Map format and SAMtools
journal, June 2009
- Li, H.; Handsaker, B.; Wysoker, A.
- Bioinformatics, Vol. 25, Issue 16
Spliceman--a computational web server that predicts sequence variations in pre-mRNA splicing
journal, February 2012
- Lim, K. H.; Fairbrother, W. G.
- Bioinformatics, Vol. 28, Issue 7
Retinoblastoma: Revisiting the model prototype of inherited cancer
journal, January 2004
- Lohmann, Dietmar R.; Gallie, Brenda L.
- American Journal of Medical Genetics, Vol. 129C, Issue 1
Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome
journal, December 2016
- Malone, Andrew F.; Funk, Steven D.; Alhamad, Tarek
- Pediatric Nephrology, Vol. 32, Issue 6
PARP1 Inhibitors: Antitumor Drug Design
journal, September 2015
- Malyuchenko, N. V.; Kotova, E. Yu.; Kulaeva, O. I.
- Acta Naturae, Vol. 7, Issue 3
Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations
journal, July 1996
- Mautner, V. -F.; Baser, M. E.; Kluwe, Lan
- Human Genetics, Vol. 98, Issue 2
Proteogenomics connects somatic mutations to signalling in breast cancer
journal, May 2016
- Mertins, Philipp; Mani, D. R.; Ruggles, Kelly V.
- Nature, Vol. 534, Issue 7605
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing
journal, January 2014
- Mort, Matthew; Sterne-Weiler, Timothy; Li, Biao
- Genome Biology, Vol. 15, Issue 1
NetMHCpan-3.0; improved prediction of binding to MHC class I molecules integrating information from multiple receptor and peptide length datasets
journal, March 2016
- Nielsen, Morten; Andreatta, Massimo
- Genome Medicine, Vol. 8, Issue 1
Protein-structure-guided discovery of functional mutations across 19 cancer types
journal, June 2016
- Niu, Beifang; Scott, Adam D.; Sengupta, Sohini
- Nature Genetics, Vol. 48, Issue 8
Missense and nonsense mutations in codon 659 ofMLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds
journal, December 1999
- Nystr�m-Lahti, Minna; Holmberg, Mari; Fidalgo, Paulo
- Genes, Chromosomes and Cancer, Vol. 26, Issue 4
U2AF1 mutations alter sequence specificity of pre-mRNA binding and splicing
journal, October 2014
- Okeyo-Owuor, T.; White, B. S.; Chatrikhi, R.
- Leukemia, Vol. 29, Issue 4
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12
journal, May 2003
- Pagani, F.
- Human Molecular Genetics, Vol. 12, Issue 10
SMARCE1 suppresses EGFR expression and controls responses to MET and ALK inhibitors in lung cancer
journal, February 2015
- Papadakis, Andreas I.; Sun, Chong; Knijnenburg, Theo A.
- Cell Research, Vol. 25, Issue 4
BAP1 loss defines a new class of renal cell carcinoma
journal, June 2012
- Peña-Llopis, Samuel; Vega-Rubín-de-Celis, Silvia; Liao, Arnold
- Nature Genetics, Vol. 44, Issue 7
Synonymous Mutations in RNASEH2A Create Cryptic Splice Sites Impairing RNase H2 Enzyme Function in Aicardi-Goutières Syndrome
journal, May 2013
- Rice, Gillian I.; Reijns, Martin A. M.; Coffin, Stephanie R.
- Human Mutation, Vol. 34, Issue 8
Effect of predicted protein-truncating genetic variants on the human transcriptome
journal, May 2015
- Rivas, M. A.; Pirinen, M.; Conrad, D. F.
- Science, Vol. 348, Issue 6235
Integrative genomics viewer
journal, January 2011
- Robinson, James T.; Thorvaldsdóttir, Helga; Winckler, Wendy
- Nature Biotechnology, Vol. 29, Issue 1
Understanding the contribution of synonymous mutations to human disease
journal, August 2011
- Sauna, Zuben E.; Kimchi-Sarfaty, Chava
- Nature Reviews Genetics, Vol. 12, Issue 10
Large-scale analysis of genome and transcriptome alterations in multiple tumors unveils novel cancer-relevant splicing networks
journal, April 2016
- Sebestyén, Endre; Singh, Babita; Miñana, Belén
- Genome Research, Vol. 26, Issue 6
A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett Syndrome patient
journal, January 2013
- Sheikh, Taimoor I.; Mittal, Kirti; Willis, Mary J.
- Orphanet Journal of Rare Diseases, Vol. 8, Issue 1
Pathogenic variants that alter protein code often disrupt splicing
journal, April 2017
- Soemedi, Rachel; Cygan, Kamil J.; Rhine, Christy L.
- Nature Genetics, Vol. 49, Issue 6
Synonymous Mutations Frequently Act as Driver Mutations in Human Cancers
journal, March 2014
- Supek, Fran; Miñana, Belén; Valcárcel, Juan
- Cell, Vol. 156, Issue 6
A Second Leaky Splice-Site Mutation in the Spastin Gene
journal, December 2001
- Svenson, Ingrid K.; Ashley-Koch, Allison E.; Pericak-Vance, Margaret A.
- The American Journal of Human Genetics, Vol. 69, Issue 6
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects
journal, December 2008
- Tournier, Isabelle; Vezain, Myriam; Martins, Alexandra
- Human Mutation, Vol. 29, Issue 12
Insertion-and-deletion-derived tumour-specific neoantigens and the immunogenic phenotype: a pan-cancer analysis
journal, August 2017
- Turajlic, Samra; Litchfield, Kevin; Xu, Hang
- The Lancet Oncology, Vol. 18, Issue 8
Aberrant and Alternative Splicing in Cancer
journal, November 2004
- Venables, Julian P.
- Cancer Research, Vol. 64, Issue 21
A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy
journal, August 2011
- Vezain, Myriam; Gérard, Bénédicte; Drunat, Séverine
- Human Mutation, Vol. 32, Issue 9
A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma
journal, October 2012
- Wadt, Karin; Choi, Jiyeon; Chung, Joon-Yong
- Pigment Cell & Melanoma Research, Vol. 25, Issue 6
Genomic features defining exonic variants that modulate splicing
journal, January 2010
- Woolfe, Adam; Mullikin, James C.; Elnitski, Laura
- Genome Biology, Vol. 11, Issue 2
Timeless Interacts with PARP-1 to Promote Homologous Recombination Repair
journal, October 2015
- Xie, Si; Mortusewicz, Oliver; Ma, Hoi Tang
- Molecular Cell, Vol. 60, Issue 1
Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model
journal, July 2003
- Yang, Y.
- Human Molecular Genetics, Vol. 12, Issue 17
Maximum Entropy Modeling of Short Sequence Motifs with Applications to RNA Splicing Signals
journal, March 2004
- Yeo, Gene; Burge, Christopher B.
- Journal of Computational Biology, Vol. 11, Issue 2-3
Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression
journal, January 2008
- Zhang, Katherine; Nowak, Inga; Rushlow, Diane
- Human Mutation, Vol. 29, Issue 4
Works referencing / citing this record:
Proteogenomic Analysis of Protein Sequence Alterations in Breast Cancer Cells
journal, July 2019
- Lazar, Iulia M.; Karcini, Arba; Ahuja, Shreya
- Scientific Reports, Vol. 9, Issue 1
Alternative mRNA splicing in cancer immunotherapy
journal, July 2019
- Frankiw, Luke; Baltimore, David; Li, Guideng
- Nature Reviews Immunology, Vol. 19, Issue 11
Proneural and mesenchymal glioma stem cells display major differences in splicing and lncRNA profiles
journal, January 2020
- Guardia, Gabriela D. A.; Correa, Bruna R.; Araujo, Patricia Rosa
- npj Genomic Medicine, Vol. 5, Issue 1
Putatively cancer-specific exon–exon junctions are shared across patients and present in developmental and other non-cancer cells
journal, January 2020
- David, Julianne K.; Maden, Sean K.; Weeder, Benjamin R.
- NAR Cancer, Vol. 2, Issue 1
SpliceHetero: An information theoretic approach for measuring spliceomic intratumor heterogeneity from bulk tumor RNA-seq
journal, October 2019
- Kim, Minsu; Lee, Sangseon; Lim, Sangsoo
- PLOS ONE, Vol. 14, Issue 10
An atlas of transposable element-derived alternative splicing in cancer
journal, February 2020
- Clayton, Evan A.; Rishishwar, Lavanya; Huang, Tzu-Chuan
- Philosophical Transactions of the Royal Society B: Biological Sciences, Vol. 375, Issue 1795
K120R mutation inactivates p53 by creating an aberrant splice site leading to nonsense-mediated mRNA decay
journal, October 2018
- Lee, Seo-Young; Park, Jung-Hyun; Jeong, Sangkyun
- Oncogene, Vol. 38, Issue 10
Pan-cancer analysis of clinical relevance of alternative splicing events in 31 human cancers
journal, August 2019
- Zhang, Yangjun; Yan, Libin; Zeng, Jin
- Oncogene, Vol. 38, Issue 40
Splicing and cancer: Challenges and opportunities
journal, February 2019
- Coltri, Patricia P.; dos Santos, Maria G. P.; da Silva, Guilherme H. G.
- Wiley Interdisciplinary Reviews: RNA, Vol. 10, Issue 3
Splicing isoform-specific functional genomic in cancer cells
journal, December 2018
- Brosseau, Jean-Philippe
- Applied Cancer Research, Vol. 38, Issue 1
Alternative tumour-specific antigens
journal, July 2019
- Smith, Christof C.; Selitsky, Sara R.; Chai, Shengjie
- Nature Reviews Cancer, Vol. 19, Issue 8
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide
journal, December 2018
- Walpole, Sebastian; Pritchard, Antonia L.; Cebulla, Colleen M.
- JNCI: Journal of the National Cancer Institute, Vol. 110, Issue 12
Finding Neo (antigens, that is)
journal, July 2019
- Olweus, Johanna; Lund-Johansen, Fridtjof
- Blood, Vol. 134, Issue 2
A deep neural network approach to predicting clinical outcomes of neuroblastoma patients
journal, December 2019
- Tranchevent, Léon-Charles; Azuaje, Francisco; Rajapakse, Jagath C.
- BMC Medical Genomics, Vol. 12, Issue S8
Synonymous but Not Silent: A Synonymous VHL Variant in Exon 2 Confers Susceptibility to Familial Pheochromocytoma and von Hippel-Lindau Disease
journal, April 2019
- Flores, Shahida K.; Cheng, Ziming; Jasper, Angela M.
- The Journal of Clinical Endocrinology & Metabolism, Vol. 104, Issue 9
Pan-cancer repository of validated natural and cryptic mRNA splicing mutations
journal, January 2018
- Shirley, Ben C.; Mucaki, Eliseos J.; Rogan, Peter K.
- F1000Research, Vol. 7
A pan-cancer analysis of synonymous mutations
journal, June 2019
- Sharma, Yogita; Miladi, Milad; Dukare, Sandeep
- Nature Communications, Vol. 10, Issue 1
Targeting mRNA processing as an anticancer strategy
journal, September 2019
- Desterro, Joana; Bak-Gordon, Pedro; Carmo-Fonseca, Maria
- Nature Reviews Drug Discovery, Vol. 19, Issue 2
Best practices for bioinformatic characterization of neoantigens for clinical utility
journal, August 2019
- Richters, Megan M.; Xia, Huiming; Campbell, Katie M.
- Genome Medicine, Vol. 11, Issue 1
Pvclust: an R package for assessing the uncertainty in hierarchical clustering
journal, April 2006
- Suzuki, R.; Shimodaira, H.
- Bioinformatics, Vol. 22, Issue 12
Pan-cancer repository of validated natural and cryptic mRNA splicing mutations
journal, January 2018
- Shirley, Ben C.; Mucaki, Eliseos J.; Rogan, Peter K.
- F1000Research, Vol. 7
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