What is next generation sequencing?

by Behjati, Sam, Tarpey, Patrick S
Published 2013

A Pathogenic Mosaic TP53 Mutation in Two Germ Layers Detected by Next Generation Sequencing

by Behjati, Sam, Maschietto, Mariana, Williams, Richard D., Side, Lucy, Hubank, Mike, West, Rebecca, Pearson, Katie, Sebire, Neil, Tarpey, Patrick, Futreal, Andrew, Brooks, Tony, Stratton, Michael R., Anderson, John
Published 2014

Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism

by Long, Philip, May, Melanie M., James, Victoria M., Grannò, Simone, Johnson, John P., Tarpey, Patrick, Stevenson, Roger E., Harvey, Kirsten, Schwartz, Charles E., Harvey, Robert J.
Published 2016

Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast‐rich mimics

by Presneau, Nadège, Baumhoer, Daniel, Behjati, Sam, Pillay, Nischalan, Tarpey, Patrick, Campbell, Peter J, Jundt, Gernot, Hamoudi, Rifat, Wedge, David C, Loo, Peter Van, Hassan, A Bassim, Khatri, Bhavisha, Ye, Hongtao, Tirabosco, Roberto, Amary, M Fernanda, Flanagan, Adrienne M
Published 2015

Fibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo-adjuvant chemotherapy

by Fernanda Amary, M, Ye, Hongtao, Berisha, Fitim, Khatri, Bhavisha, Forbes, Georgina, Lehovsky, Katie, Frezza, Anna M, Behjati, Sam, Tarpey, Patrick, Pillay, Nischalan, Campbell, Peter J, Tirabosco, Roberto, Presneau, Nadège, Strauss, Sandra J, Flanagan, Adrienne M
Published 2014

Workshop report on the 2nd Joint ENCCA/EuroSARC European bone sarcoma network meeting: integration of clinical trials with tumour biology

by Anninga, Jakob K, Cleton-Jansen, Anne-Marie, Hassan, Bass, Amary, M Fernanda, Baumhoer, Daniel, Blay, Jean-Yves, Brugieres, Laurence, Ferrari, Stefano, Jürgens, Heribert, Kempf-Bielack, Beate, Kovar, Heinrich, Myklebost, Ola, Nathrath, Michaela, Picci, Piero, Riegman, Peter, Schilham, Marco W, Soliman, Ranin, Stark, Dan P, Strauss, Sandra, Sydes, Matthew, Tarpey, Patrick, Thomas, David, Whelan, Jeremy, Wilhelm, Miriam, Zamzam, Manal, Gelderblom, Hans, Bielack, Stefan S
Published 2014

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons

by May, Melanie, Hwang, Kyu-Seok, Miles, Judith, Williams, Charlie, Niranjan, Tejasvi, Kahler, Stephen G., Chiurazzi, Pietro, Steindl, Katharina, Van Der Spek, Peter J., Swagemakers, Sigrid, Mueller, Jennifer, Stefl, Shannon, Alexov, Emil, Ryu, Jeong-Im, Choi, Jung-Hwa, Kim, Hyun-Taek, Tarpey, Patrick, Neri, Giovanni, Holloway, Lynda, Skinner, Cindy, Stevenson, Roger E., Dorsky, Richard I., Wang, Tao, Schwartz, Charles E., Kim, Cheol-Hee
Published 2015

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

by Friez, Michael J, Brooks, Susan Sklower, Stevenson, Roger E, Field, Michael, Basehore, Monica J, Adès, Lesley C, Sebold, Courtney, McGee, Stephen, Saxon, Samantha, Skinner, Cindy, Craig, Maria E, Murray, Lucy, Simensen, Richard J, Yap, Ying Yzu, Shaw, Marie A, Gardner, Alison, Corbett, Mark, Kumar, Raman, Bosshard, Matthias, van Loon, Barbara, Tarpey, Patrick S, Abidi, Fatima, Gecz, Jozef, Schwartz, Charles E
Published 2016

Unscrambling the genomic chaos of osteosarcoma reveals extensive transcript fusion, recurrent rearrangements and frequent novel TP53 aberrations

by Lorenz, Susanne, Barøy, Tale, Sun, Jinchang, Nome, Torfinn, Vodák, Daniel, Bryne, Jan-Christian, Håkelien, Anne-Mari, Fernandez-Cuesta, Lynnette, Möhlendick, Birte, Rieder, Harald, Szuhai, Karoly, Zaikova, Olga, Ahlquist, Terje C., Thomassen, Gard O. S., Skotheim, Rolf I., Lothe, Ragnhild A., Tarpey, Patrick S., Campbell, Peter, Flanagan, Adrienne, Myklebost, Ola, Meza-Zepeda, Leonardo A.
Published 2015

Mutational signatures of ionizing radiation in second malignancies

by Behjati, Sam, Gundem, Gunes, Wedge, David C., Roberts, Nicola D., Tarpey, Patrick S., Cooke, Susanna L., Van Loo, Peter, Alexandrov, Ludmil B., Ramakrishna, Manasa, Davies, Helen, Nik-Zainal, Serena, Hardy, Claire, Latimer, Calli, Raine, Keiran M., Stebbings, Lucy, Menzies, Andy, Jones, David, Shepherd, Rebecca, Butler, Adam P., Teague, Jon W., Jorgensen, Mette, Khatri, Bhavisha, Pillay, Nischalan, Shlien, Adam, Futreal, P. Andrew, Badie, Christophe, McDermott, Ultan, Bova, G. Steven, Richardson, Andrea L., Flanagan, Adrienne M., Stratton, Michael R., Campbell, Peter J.
Published 2016

Processed pseudogenes acquired somatically during cancer development

by Cooke, Susanna L., Shlien, Adam, Marshall, John, Pipinikas, Christodoulos P., Martincorena, Inigo, Tubio, Jose M.C., Li, Yilong, Menzies, Andrew, Mudie, Laura, Ramakrishna, Manasa, Yates, Lucy, Davies, Helen, Bolli, Niccolo, Bignell, Graham R., Tarpey, Patrick S., Behjati, Sam, Nik-Zainal, Serena, Papaemmanuil, Elli, Teixeira, Vitor H., Raine, Keiran, O’Meara, Sarah, Dodoran, Maryam S., Teague, Jon W., Butler, Adam P., Iacobuzio-Donahue, Christine, Santarius, Thomas, Grundy, Richard G., Malkin, David, Greaves, Mel, Munshi, Nikhil, Flanagan, Adrienne M., Bowtell, David, Martin, Sancha, Larsimont, Denis, Reis-Filho, Jorge S., Boussioutas, Alex, Taylor, Jack A., Hayes, Neil D., Janes, Sam M., Futreal, P. Andrew, Stratton, Michael R., McDermott, Ultan, Campbell, Peter J.
Published 2014

The genetic heterogeneity and mutational burden of engineered melanomas in zebrafish models

by Yen, Jennifer, White, Richard M, Wedge, David C, Van Loo, Peter, de Ridder, Jeroen, Capper, Amy, Richardson, Jennifer, Jones, David, Raine, Keiran, Watson, Ian R, Wu, Chang-Jiun, Cheng, Jiqiu, Martincorena, Iñigo, Nik-Zainal, Serena, Mudie, Laura, Moreau, Yves, Marshall, John, Ramakrishna, Manasa, Tarpey, Patrick, Shlien, Adam, Whitmore, Ian, Gamble, Steve, Latimer, Calli, Langdon, Erin, Kaufman, Charles, Dovey, Mike, Taylor, Alison, Menzies, Andy, McLaren, Stuart, O’Meara, Sarah, Butler, Adam, Teague, Jon, Lister, James, Chin, Lynda, Campbell, Peter, Adams, David J, Zon, Leonard I, Patton, E Elizabeth, Stemple, Derek L, Futreal, P Andy
Published 2013

Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer

by Shlien, Adam, Raine, Keiran, Fuligni, Fabio, Arnold, Roland, Nik-Zainal, Serena, Dronov, Serge, Mamanova, Lira, Rosic, Andrej, Ju, Young Seok, Cooke, Susanna L., Ramakrishna, Manasa, Papaemmanuil, Elli, Davies, Helen R., Tarpey, Patrick S., Van Loo, Peter, Wedge, David C., Jones, David R., Martin, Sancha, Marshall, John, Anderson, Elizabeth, Hardy, Claire, Barbashina, Violetta, Aparicio, Samuel A.J.R., Sauer, Torill, Garred, Øystein, Vincent-Salomon, Anne, Mariani, Odette, Boyault, Sandrine, Fatima, Aquila, Langerød, Anita, Borg, Åke, Thomas, Gilles, Richardson, Andrea L., Børresen-Dale, Anne-Lise, Polyak, Kornelia, Stratton, Michael R., Campbell, Peter J.
Published 2016

Mutational Processes Molding the Genomes of 21 Breast Cancers

by Nik-Zainal, Serena, Alexandrov, Ludmil B., Wedge, David C., Van Loo, Peter, Greenman, Christopher D., Raine, Keiran, Jones, David, Hinton, Jonathan, Marshall, John, Stebbings, Lucy A., Menzies, Andrew, Martin, Sancha, Leung, Kenric, Chen, Lina, Leroy, Catherine, Ramakrishna, Manasa, Rance, Richard, Lau, King Wai, Mudie, Laura J., Varela, Ignacio, McBride, David J., Bignell, Graham R., Cooke, Susanna L., Shlien, Adam, Gamble, John, Whitmore, Ian, Maddison, Mark, Tarpey, Patrick S., Davies, Helen R., Papaemmanuil, Elli, Stephens, Philip J., McLaren, Stuart, Butler, Adam P., Teague, Jon W., Jönsson, Göran, Garber, Judy E., Silver, Daniel, Miron, Penelope, Fatima, Aquila, Boyault, Sandrine, Langerød, Anita, Tutt, Andrew, Martens, John W.M., Aparicio, Samuel A.J.R., Borg, Åke, Salomon, Anne Vincent, Thomas, Gilles, Børresen-Dale, Anne-Lise, Richardson, Andrea L., Neuberger, Michael S., Futreal, P. Andrew, Campbell, Peter J., Stratton, Michael R.
Published 2012

The Life History of 21 Breast Cancers

by Nik-Zainal, Serena, Van Loo, Peter, Wedge, David C., Alexandrov, Ludmil B., Greenman, Christopher D., Lau, King Wai, Raine, Keiran, Jones, David, Marshall, John, Ramakrishna, Manasa, Shlien, Adam, Cooke, Susanna L., Hinton, Jonathan, Menzies, Andrew, Stebbings, Lucy A., Leroy, Catherine, Jia, Mingming, Rance, Richard, Mudie, Laura J., Gamble, Stephen J., Stephens, Philip J., McLaren, Stuart, Tarpey, Patrick S., Papaemmanuil, Elli, Davies, Helen R., Varela, Ignacio, McBride, David J., Bignell, Graham R., Leung, Kenric, Butler, Adam P., Teague, Jon W., Martin, Sancha, Jönsson, Goran, Mariani, Odette, Boyault, Sandrine, Miron, Penelope, Fatima, Aquila, Langerød, Anita, Aparicio, Samuel A.J.R., Tutt, Andrew, Sieuwerts, Anieta M., Borg, Åke, Thomas, Gilles, Salomon, Anne Vincent, Richardson, Andrea L., Børresen-Dale, Anne-Lise, Futreal, P. Andrew, Stratton, Michael R., Campbell, Peter J.
Published 2012

Recurrent PTPRB and PLCG1 mutations in angiosarcoma

by Behjati, Sam, Tarpey, Patrick S, Sheldon, Helen, Martincorena, Inigo, Van Loo, Peter, Gundem, Gunes, Wedge, David C, Ramakrishna, Manasa, Cooke, Susanna L, Pillay, Nischalan, Vollan, Hans Kristian M, Papaemmanuil, Elli, Koss, Hans, Bunney, Tom D, Hardy, Claire, Joseph, Olivia R, Martin, Sancha, Mudie, Laura, Butler, Adam, Teague, Jon W, Patil, Meena, Steers, Graham, Cao, Yu, Gumbs, Curtis, Ingram, Davis, Lazar, Alexander J, Little, Latasha, Mahadeshwar, Harshad, Protopopov, Alexei, Al Sannaa, Ghadah A, Seth, Sahil, Song, Xingzhi, Tang, Jiabin, Zhang, Jianhua, Ravi, Vinod, Torres, Keila E, Khatri, Bhavisha, Halai, Dina, Roxanis, Ioannis, Baumhoer, Daniel, Tirabosco, Roberto, Amary, M Fernanda, Boshoff, Chris, McDermott, Ultan, Katan, Matilda, Stratton, Michael R, Futreal, P Andrew, Flanagan, Adrienne M, Harris, Adrian, Campbell, Peter J
Published 2014

Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

by Ju, Young Seok, Alexandrov, Ludmil B, Gerstung, Moritz, Martincorena, Inigo, Nik-Zainal, Serena, Ramakrishna, Manasa, Davies, Helen R, Papaemmanuil, Elli, Gundem, Gunes, Shlien, Adam, Bolli, Niccolo, Behjati, Sam, Tarpey, Patrick S, Nangalia, Jyoti, Massie, Charles E, Butler, Adam P, Teague, Jon W, Vassiliou, George S, Green, Anthony R, Du, Ming-Qing, Unnikrishnan, Ashwin, Pimanda, John E, Teh, Bin Tean, Munshi, Nikhil, Greaves, Mel, Vyas, Paresh, El-Naggar, Adel K, Santarius, Tom, Collins, V Peter, Grundy, Richard, Taylor, Jack A, Hayes, D Neil, Malkin, David, Foster, Christopher S, Warren, Anne Y, Whitaker, Hayley C, Brewer, Daniel, Eeles, Rosalind, Cooper, Colin, Neal, David, Visakorpi, Tapio, Isaacs, William B, Bova, G Steven, Flanagan, Adrienne M, Futreal, P Andrew, Lynch, Andy G, Chinnery, Patrick F, McDermott, Ultan, Stratton, Michael R, Campbell, Peter J
Published 2014

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing

by Alioto, Tyler S., Buchhalter, Ivo, Derdak, Sophia, Hutter, Barbara, Eldridge, Matthew D., Hovig, Eivind, Heisler, Lawrence E., Beck, Timothy A., Simpson, Jared T., Tonon, Laurie, Sertier, Anne-Sophie, Patch, Ann-Marie, Jäger, Natalie, Ginsbach, Philip, Drews, Ruben, Paramasivam, Nagarajan, Kabbe, Rolf, Chotewutmontri, Sasithorn, Diessl, Nicolle, Previti, Christopher, Schmidt, Sabine, Brors, Benedikt, Feuerbach, Lars, Heinold, Michael, Gröbner, Susanne, Korshunov, Andrey, Tarpey, Patrick S., Butler, Adam P., Hinton, Jonathan, Jones, David, Menzies, Andrew, Raine, Keiran, Shepherd, Rebecca, Stebbings, Lucy, Teague, Jon W., Ribeca, Paolo, Giner, Francesc Castro, Beltran, Sergi, Raineri, Emanuele, Dabad, Marc, Heath, Simon C., Gut, Marta, Denroche, Robert E., Harding, Nicholas J., Yamaguchi, Takafumi N., Fujimoto, Akihiro, Nakagawa, Hidewaki, Quesada, Víctor, Valdés-Mas, Rafael, Nakken, Sigve, Vodák, Daniel, Bower, Lawrence, Lynch, Andrew G., Anderson, Charlotte L., Waddell, Nicola, Pearson, John V., Grimmond, Sean M., Peto, Myron, Spellman, Paul, He, Minghui, Kandoth, Cyriac, Lee, Semin, Zhang, John, Létourneau, Louis, Ma, Singer, Seth, Sahil, Torrents, David, Xi, Liu, Wheeler, David A., López-Otín, Carlos, Campo, Elías, Campbell, Peter J., Boutros, Paul C., Puente, Xose S., Gerhard, Daniela S., Pfister, Stefan M., McPherson, John D., Hudson, Thomas J., Schlesner, Matthias, Lichter, Peter, Eils, Roland, Jones, David T. W., Gut, Ivo G.
Published 2015