نتائج البحث - Tarpey, Patrick S. 

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

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VAGrENT: Variation Annotation Generator حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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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