Rezultati - Tarpey, Patrick S. 

What is next generation sequencing? od Behjati, Sam, Tarpey, Patrick S

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VAGrENT: Variation Annotation Generator od Menzies, Andy, Teague, Jon W., Butler, Adam P., Davies, Helen, Tarpey, Patrick, Nik-Zainal, Serena, Campbell, Peter J.

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cgpCaVEManWrapper: Simple Execution of CaVEMan in Order to Detect Somatic Single Nucleotide Variants in NGS Data od Jones, David, Raine, Keiran M., Davies, Helen, Tarpey, Patrick S., Butler, Adam P., Teague, Jon W., Nik-Zainal, Serena, Campbell, Peter J.

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cgpPindel: Identifying Somatically Acquired Insertion and Deletion Events from Paired End Sequencing od Raine, Keiran M., Hinton, Jonathan, Butler, Adam P., Teague, Jon W., Davies, Helen, Tarpey, Patrick, Nik-Zainal, Serena, Campbell, Peter J.

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Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer od Snape, Katie, Ruark, Elise, Tarpey, Patrick, Renwick, Anthony, Turnbull, Clare, Seal, Sheila, Murray, Anne, Hanks, Sandra, Douglas, Jenny, Stratton, Michael R., Rahman, Nazneen

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Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders od Peat, Rachel A., Gécz, Jozef, Fallon, Justin R., Tarpey, Patrick S., Smith, Raffaella, Futreal, Andrew, Stratton, Michael R., Lamandé, Shireen R., Yang, Nan, North, Kathryn N.

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ascatNgs: Identifying Somatically Acquired Copy-Number Alterations from Whole-Genome Sequencing Data od Raine, Keiran M., Van Loo, Peter, Wedge, David C., Jones, David, Menzies, Andrew, Butler, Adam P., Teague, Jon W., Tarpey, Patrick, Nik-Zainal, Serena, Campbell, Peter J.

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An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity od Takano, Kyoko, Liu, Dan, Tarpey, Patrick, Gallant, Esther, Lam, Alex, Witham, Shawn, Alexov, Emil, Chaubey, Alka, Stevenson, Roger E., Schwartz, Charles E., Board, Philip G., Dulhunty, Angela F.

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

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Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation od Molinari, Florence, Foulquier, François, Tarpey, Patrick S., Morelle, Willy, Boissel, Sarah, Teague, Jon, Edkins, Sarah, Futreal, P. Andrew, Stratton, Michael R., Turner, Gillian, Matthijs, Gert, Gecz, Jozef, Munnich, Arnold, Colleaux, Laurence

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Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation od Rujirabanjerd, Sinitdhorn, Nelson, John, Tarpey, Patrick S, Hackett, Anna, Edkins, Sarah, Raymond, F Lucy, Schwartz, Charles E, Turner, Gillian, Iwase, Shigeki, Shi, Yang, Futreal, P Andrew, Stratton, Michael R, Gecz, Jozef

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Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation od Rujirabanjerd, Sinitdhorn, Nelson, John, Tarpey, Patrick S, Hackett, Anna, Edkins, Sarah, Raymond, F Lucy, Schwartz, Charles E, Turner, Gillian, Iwase, Shigeki, Shi, Yang, Futreal, P Andrew, Stratton, Michael R, Gecz, Jozef

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The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer od Trotman, Jamie, Armstrong, Ruth, Firth, Helen, Trayers, Claire, Watkins, James, Allinson, Kieren, Jacques, Thomas S., Nicholson, James C., Burke, G. A. Amos, Behjati, Sam, Murray, Matthew J., Hook, Catherine E., Tarpey, Patrick

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Natural History of Christianson Syndrome od Schroer, Richard J., Holden, Kenton R., Tarpey, Patrick S., Matheus, Maria Giselle, Griesemer, David A., Friez, Michael J., Fan, Jane Zheng, Simensen, Richard J., Strømme, Petter, Stevenson, Roger E., Stratton, Michael R., Schwartz, Charles E.

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

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Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders od Srivastava, Siddharth, Niranjan, Tejasvi, May, Melanie M., Tarpey, Patrick, Allen, William, Hackett, Anna, Jouk, Pierre‐Simon, Raymond, Lucy, Briault, Slyvain, Skinner, Cindy, Toutain, Annick, Gecz, Jozef, Heath, William, Stevenson, Roger E., Schwartz, Charles E., Wang, Tao

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Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes od Santos, Lane J. Jaeckle, Xing, Chao, Barnes, Robert B., Ades, Lesley C., Megarbane, Andre, Vidal, Christopher, Xuereb, Angela, Tarpey, Patrick S., Smith, Raffaella, Khazab, Mahmoud, Shoubridge, Cheryl, Partington, Michael, Futreal, Andrew, Stratton, Michael R., Gecz, Jozef, Zinn, Andrew R.

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

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The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus od Thomas, Mervyn G., Crosier, Moira, Lindsay, Susan, Kumar, Anil, Thomas, Shery, Araki, Masasuke, Talbot, Chris J., McLean, Rebecca J., Surendran, Mylvaganam, Taylor, Katie, Leroy, Bart P., Moore, Anthony T., Hunter, David G., Hertle, Richard W., Tarpey, Patrick, Langmann, Andrea, Lindner, Susanne, Brandner, Martina, Gottlob, Irene

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Circulating tumor DNA in patients with colorectal adenomas: assessment of detectability and genetic heterogeneity od Myint, Ni Ni Moe, Verma, Ajay M., Fernandez-Garcia, Daniel, Sarmah, Panchali, Tarpey, Patrick S., Al-Aqbi, Saif Sattar, Cai, Hong, Trigg, Ricky, West, Kevin, Howells, Lynne M., Thomas, Anne, Brown, Karen, Guttery, David S., Singh, Baljit, Pringle, Howard J., McDermott, Ultan, Shaw, Jacqui A., Rufini, Alessandro

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