The 100 000 Genomes Project: bringing whole genome sequencing to the NHS von Turnbull, Clare, Scott, Richard H, Thomas, Ellen, Jones, Louise, Murugaesu, Nirupa, Pretty, Freya Boardman, Halai, Dina, Baple, Emma, Craig, Clare, Hamblin, Angela, Henderson, Shirley, Patch, Christine, O’Neill, Amanda, Devereaux, Andrew, Smith, Katherine, Martin, Antonio Rueda, Sosinsky, Alona, McDonagh, Ellen M, Sultana, Razvan, Mueller, Michael, Smedley, Damian, Toms, Adam, Dinh, Lisa, Fowler, Tom, Bale, Mark, Hubbard, Tim, Rendon, Augusto, Hill, Sue, Caulfield, Mark J

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Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone von Behjati, Sam, Tarpey, Patrick S, Presneau, Nadège, Scheipl, Susanne, Pillay, Nischalan, Van Loo, Peter, Wedge, David C, Cooke, Susanna L, Gundem, Gunes, Davies, Helen, Nik-Zainal, Serena, Martin, Sancha, McLaren, Stuart, Goody, Victoria, Robinson, Ben, Butler, Adam, Teague, Jon W, Halai, Dina, Khatri, Bhavisha, Myklebost, Ola, Baumhoer, Daniel, Jundt, Gernot, Hamoudi, Rifat, Tirabosco, Roberto, Amary, M Fernanda, Futreal, P Andrew, Stratton, Michael R, Campbell, Peter J, Flanagan, Adrienne M

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Recurrent PTPRB and PLCG1 mutations in angiosarcoma von 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

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Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma von Tarpey, Patrick S, Behjati, Sam, Cooke, Susanna L, Van Loo, Peter, Wedge, David C, Pillay, Nischalan, Marshall, John, O'Meara, Sarah, Davies, Helen, Nik-Zainal, Serena, Beare, David, Butler, Adam, Gamble, John, Hardy, Claire, Hinton, Jonathon, Jia, Ming Ming, Jayakumar, Alagu, Jones, David, Latimer, Calli, Maddison, Mark, Martin, Sancha, McLaren, Stuart, Menzies, Andrew, Mudie, Laura, Raine, Keiran, Teague, Jon W, Tubio, Jose M C, Halai, Dina, Tirabosco, Roberto, Amary, Fernanda, Campbell, Peter J, Stratton, Michael R, Flanagan, Adrienne M, Futreal, P Andrew

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Meta-analysis of IDH-mutant cancers identifies EBF1 as an interaction partner for TET2 von Guilhamon, Paul, Eskandarpour, Malihe, Halai, Dina, Wilson, Gareth A., Feber, Andrew, Teschendorff, Andrew E., Gomez, Valenti, Hergovich, Alexander, Tirabosco, Roberto, Fernanda Amary, M., Baumhoer, Daniel, Jundt, Gernot, Ross, Mark T., Flanagan, Adrienne M., Beck, Stephan

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Sensitivity of MDM2 amplification and unexpected multiple faint alphoid 12 (alpha 12 satellite sequences) signals in atypical lipomatous tumor von Kashima, Takeshi, Halai, Dina, Ye, Hongtao, Hing, Sandra Nalini, Delaney, David, Pollock, Robin, O'Donnell, Paul, Tirabosco, Roberto, Flanagan, Adrienne Margaret

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An integrated functional genomics approach identifies the regulatory network directed by brachyury (T) in chordoma von Nelson, Andrew C, Pillay, Nischalan, Henderson, Stephen, Presneau, Nadège, Tirabosco, Roberto, Halai, Dina, Berisha, Fitim, Flicek, Paul, Stemple, Derek L, Stern, Claudio D, Wardle, Fiona C, Flanagan, Adrienne M

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The role of epidermal growth factor receptor in chordoma pathogenesis: a potential therapeutic target von Shalaby, Asem, Presneau, Nadège, Ye, Hongtao, Halai, Dina, Berisha, Fitim, Idowu, Bernadine, Leithner, Andreas, Liegl, Bernadette, Briggs, Timothy RW, Bacsi, Krisztian, Kindblom, Lars-Gunnar, Athanasou, Nicholas, Amary, Maria Fernanda, Hogendoorn, Pancras CW, Tirabosco, Roberto, Flanagan, Adrienne M

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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report von Smedley, Damian, Smith, Katherine R., Martin, Antonio, Thomas, Ellen A., McDonagh, Ellen M., Cipriani, Valentina, Ellingford, Jamie M., Arno, Gavin, Tucci, Arianna, Vandrovcova, Jana, Chan, Georgia, Williams, Hywel J., Ratnaike, Thiloka, Wei, Wei, Stirrups, Kathleen, Ibanez, Kristina, Moutsianas, Loukas, Wielscher, Matthias, Need, Anna, Barnes, Michael R., Vestito, Letizia, Buchanan, James, Wordsworth, Sarah, Ashford, Sofie, Rehmstrom, Karola, Li, Emily, Fuller, Gavin, Twiss, Philip, Spasic-Boskovic, Olivera, Halsall, Sally, Floto, R. Andres, Poole, Kenneth, Wagner, Annette, Mehta, Sarju G., Gurnell, Mark, Burrows, Nigel, James, Roger, Penkett, Christopher, Dewhurst, Eleanor, Graf, Stefan, Mapeta, Rutendo, Kasanicki, Mary, Haworth, Andrea, Savage, Helen, Babcock, Melanie, Reese, Martin G., Bale, Mark, Baple, Emma, Boustred, Christopher, Brittain, Helen, de Burca, Anna, Bleda, Marta, Devereau, Andrew, Halai, Dina, Haraldsdottir, Eik, Hyder, Zerin, Kasperaviciute, Dalia, Patch, Christine, Polychronopoulos, Dimitris, Matchan, Angela, Sultana, Razvan, Ryten, Mina, Tavares, Ana L. T., Tregidgo, Carolyn, Turnbull, Clare, Welland, Matthew, Wood, Suzanne, Snow, Catherine, Williams, Eleanor, Leigh, Sarah, Foulger, Rebecca E., Daugherty, Louise C., Niblock, Olivia, Leong, Ivone U. S., Wright, Caroline F., Davies, Jim, Crichton, Charles, Welch, James, Woods, Kerrie, Abulhoul, Lara, Aurora, Paul, Bockenhauer, Detlef, Broomfield, Alexander, Cleary, Maureen A., Lam, Tanya, Dattani, Mehul, Footitt, Emma, Ganesan, Vijeya, Grunewald, Stephanie, Compeyrot-Lacassagne, Sandrine, Muntoni, Francesco, Pilkington, Clarissa, Quinlivan, Rosaline, Thapar, Nikhil, Wallis, Colin, Wedderburn, Lucy R., Worth, Austen, Bueser, Teofila, Compton, Cecilia, Deshpande, Charu

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Erratum: Corrigendum: Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone von Behjati, Sam, Tarpey, Patrick S, Presneau, Nadège, Scheipl, Susanne, Pillay, Nischalan, Van Loo, Peter, Wedge, David C, Cooke, Susanna L, Gundem, Gunes, Davies, Helen, Nik-Zainal, Serena, Martin, Sancha, McLaren, Stuart, Goodie, Victoria, Robinson, Ben, Butler, Adam, Teague, Jon W, Halai, Dina, Khatri, Bhavisha, Myklebost, Ola, Baumhoer, Daniel, Jundt, Gernot, Hamoudi, Rifat, Tirabosco, Roberto, Amary, M Fernanda, Futreal, P Andrew, Stratton, Michael R, Campbell, Peter J, Flanagan, Adrienne M

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IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours von Amary, M Fernanda, Bacsi, Krisztian, Maggiani, Francesca, Damato, Stephen, Halai, Dina, Berisha, Fitim, Pollock, Robin, O'Donnell, Paul, Grigoriadis, Anita, Diss, Tim, Eskandarpour, Malihe, Presneau, Nadège, Hogendoorn, Pancras CW, Futreal, Andrew, Tirabosco, Roberto, Flanagan, Adrienne M

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Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study von Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Smith, Katherine R, McDonagh, Ellen M, Polychronopoulos, Dimitris, Chan, Georgia, Davison, James E, Festenstein, Richard, Fratta, Pietro, Giunti, Paola, Howard, Robin, Venkata, Laxmi, Laurá, Matilde, Morris, Huw, Robinson, Robert, Rosser, Elisabeth, Faravelli, Francesca, Schrag, Anette, Schott, Jonathan M, Wood, Nicholas W, Bourn, David, Eggleton, Kelly, Twiss, Philip, Almheiri, Ghareesa, Sheikh, Isabella, Vandrovcova, Jana, Brittain, Helen, Baple, Emma, Moutsianas, Loukas, Deshpande, Viraj, Perry, Denise L, Ajay, Subramanian S., Rajan, Vani, Oprych, Kathryn, Chinnery, Patrick F, Wilson, Gill, Ellard, Sian, Temple, I Karen, McMullan, Dom, Naresh, Kikkeri, Flinter, Frances A, Taylor, Jenny C, Greenhalgh, Lynn, Newman, William, Brennan, Paul, Sayer, John A, Raymond, F Lucy, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Chinnery, Patrick F, Rendon, Augusto, Eberle, Michael A, Taft, Ryan J, Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-Tarí, Pedro, Hackett, Joanne, Hamblin, Angela, Holman, James, Hubbard, Tim J.P., Jones, Louise J., Kayikci, Melis, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Maleady-Crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Riesgo-Ferreiro, Pablo, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Williams, Eleanor, Zarowiecki, Magdalena

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Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2 von Amary, M Fernanda, Damato, Stephen, Halai, Dina, Eskandarpour, Malihe, Berisha, Fitim, Bonar, Fiona, McCarthy, Stan, Fantin, Valeria R, Straley, Kimberly S, Lobo, Samira, Aston, Will, Green, Claire L, Gale, Rosemary E, Tirabosco, Roberto, Futreal, Andrew, Campbell, Peter, Presneau, Nadège, Flanagan, Adrienne M

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Genome-wide association study identifies two susceptibility loci for osteosarcoma von Savage, Sharon A, Mirabello, Lisa, Wang, Zhaoming, Gastier-Foster, Julie M, Gorlick, Richard, Khanna, Chand, Flanagan, Adrienne M, Tirabosco, Roberto, Andrulis, Irene L, Wunder, Jay S, Gokgoz, Nalan, Patiño-Garcia, Ana, Sierrasesúmaga, Luis, Lecanda, Fernando, Kurucu, Nilgün, Ilhan, Inci Ergurhan, Sari, Neriman, Serra, Massimo, Hattinger, Claudia, Picci, Piero, Spector, Logan G, Barkauskas, Donald A, Marina, Neyssa, de Toledo, Silvia Regina Caminada, Petrilli, Antonio S, Amary, Maria Fernanda, Halai, Dina, Thomas, David M, Douglass, Chester, Meltzer, Paul S, Jacobs, Kevin, Chung, Charles C, Berndt, Sonja I, Purdue, Mark P, Caporaso, Neil E, Tucker, Margaret, Rothman, Nathaniel, Landi, Maria Teresa, Silverman, Debra T, Kraft, Peter, Hunter, David J, Malats, Nuria, Kogevinas, Manolis, Wacholder, Sholom, Troisi, Rebecca, Helman, Lee, Fraumeni, Joseph F, Yeager, Meredith, Hoover, Robert N, Chanock, Stephen J

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Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma von Jones, Christine L., Degasperi, Andrea, Grandi, Vieri, Amarante, Tauanne D., Mitchell, Tracey J., Nik-Zainal, Serena, Whittaker, Sean J.

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A common single-nucleotide variant in T is strongly associated with chordoma von Pillay, Nischalan, Plagnol, Vincent, Tarpey, Patrick S, Lobo, Samira B, Presneau, Nadège, Szuhai, Karoly, Halai, Dina, Berisha, Fitim, Cannon, Stephen R, Mead, Simon, Kasperaviciute, Dalia, Palmen, Jutta, Talmud, Philippa J, Kindblom, Lars-Gunnar, Amary, M Fernanda, Tirabosco, Roberto, Flanagan, Adrienne M

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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy von Pagnamenta, Alistair T, Kaiyrzhanov, Rauan, Zou, Yaqun, Da'as, Sahar I, Maroofian, Reza, Donkervoort, Sandra, Dominik, Natalia, Lauffer, Marlen, Ferla, Matteo P, Orioli, Andrea, Giess, Adam, Tucci, Arianna, Beetz, Christian, Sedghi, Maryam, Ansari, Behnaz, Barresi, Rita, Basiri, Keivan, Cortese, Andrea, Elgar, Greg, Fernandez-Garcia, Miguel A, Yip, Janice, Foley, A Reghan, Gutowski, Nicholas, Jungbluth, Heinz, Lassche, Saskia, Lavin, Tim, Marcelis, Carlo, Marks, Peter, Marini-Bettolo, Chiara, Medne, Livija, Moslemi, Ali-Reza, Sarkozy, Anna, Reilly, Mary M, Muntoni, Francesco, Millan, Francisca, Muraresku, Colleen C, Need, Anna C, Nemeth, Andrea H, Neuhaus, Sarah B, Norwood, Fiona, O'Donnell, Marie, O'Driscoll, Mary, Rankin, Julia, Yum, Sabrina W, Zolkipli-Cunningham, Zarazuela, Brusius, Isabell, Wunderlich, Gilbert, Karakaya, Mert, Wirth, Brunhilde, Fakhro, Khalid A, Tajsharghi, Homa, Bönnemann, Carsten G, Taylor, Jenny C, Houlden, Henry

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A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage von Zou, Xueqing, Koh, Gene Ching Chiek, Nanda, Arjun Scott, Degasperi, Andrea, Urgo, Katie, Roumeliotis, Theodoros I., Agu, Chukwuma A., Badja, Cherif, Momen, Sophie, Young, Jamie, Amarante, Tauanne Dias, Side, Lucy, Brice, Glen, Perez-Alonso, Vanesa, Rueda, Daniel, Gomez, Celine, Bushell, Wendy, Harris, Rebecca, Choudhary, Jyoti S., Ambrose, John C., Arumugam, Prabhu, Baple, Emma L., Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Craig, Clare E. H., Daugherty, Louise C., de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Fowler, Tom, Furio-Tari, Pedro, Giess, Adam, Hackett, Joanne M., Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James E., Hubbard, Tim J. P., Ibanez, Kristina, Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E. A., Leong, Ivonne U. S., Lopez, Javier F., Maleady-Crowe, Fiona, Mason, Joanne, McDonagh, Ellen M., Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O'Donovan, Pter, Odhams, Chris A., Orioli, Andrea, Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Polychronopoulos, Dimitris, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Riesgo-Ferreiro, Pablo, Rogers, Tim, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Smith, Katherine R., Smith, Samuel C., Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Tanguy, Melanie, Thomas, Ellen R. A., Thompson, Simon R., Tregidgo, Carolyn, Tucci, Arianna, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena

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Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia von Chen, Zhongbo, Tucci, Arianna, Cipriani, Valentina, Gustavsson, Emil K, Ibañez, Kristina, Reynolds, Regina H, Zhang, David, Vestito, Letizia, García, Alejandro Cisterna, Sethi, Siddharth, Brenton, Jonathan W, García-Ruiz, Sonia, Fairbrother-Browne, Aine, Gil-Martinez, Ana-Luisa, Wood, Nick, Hardy, John A, Smedley, Damian, Houlden, Henry, Botía, Juan, Ryten, Mina

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Role of the transcription factor T (brachyury) in the pathogenesis of sporadic chordoma: a genetic and functional-based study von Presneau, Nadège, Shalaby, Asem, Ye, Hongtao, Pillay, Nischalan, Halai, Dina, Idowu, Bernadine, Tirabosco, Roberto, Whitwell, Duncan, Jacques, Thomas S, Kindblom, Lars-Gunnar, Brüderlein, Silke, Möller, Peter, Leithner, Andreas, Liegl, Bernadette, Amary, Fernanda M, Athanasou, Nicholas N, Hogendoorn, Pancras CW, Mertens, Fredrik, Szuhai, Karoly, Flanagan, Adrienne M

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