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Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme 来自100,000基因组癌症计划的13,880肿瘤的基因组和临床数据整合对精确肿瘤学的见解 Sosinsky, Alona; Ambrose, John; Cross, William; Turnbull, Clare; Henderson, Shirley; Jones, Louise; Hamblin, Angela; Arumugam, Prabhu; Chan, Georgia; Chubb, Daniel; Noyvert, Boris; Mitchell, Jonathan; Walker, Susan; Bowman, Katy; Pasko, Dorota; Buongermino Pereira, Marianna; Volkova, Nadezda; Rueda-Martin, Antonio; Perez-Gil, Daniel; Lopez, Javier; Pullinger, John; Siddiq, Afshan; Zainy, Tala; Choudhury, Tasnim; Yavorska, Olena; Fowler, Tom; Bentley, David; Kingsley, Clare; Hing, Sandra; Deans, Zandra; Rendon, Augusto; Hill, Sue; Caulfield, Mark; Murugaesu, Nirupa 分享 收藏
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases Clause, Amanda R.; Taylor, Julie P.; Rajkumar, Revathi; Bluske, Krista; Bennett, Maren; Amendola, Laura M.; Bentley, David R.; Taft, Ryan J.; Perry, Denise L.; Coffey, Alison J. 分享 收藏
Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia Ryan, Sarra L.; Peden, John F.; Kingsbury, Zoya; Schwab, Claire J.; James, Terena; Polonen, Petri; Mijuskovic, Martina; Becq, Jenn; Yim, Richard; Cranston, Ruth E.; Hedges, Dale J.; Roberts, Kathryn G.; Mullighan, Charles G.; Vora, Ajay; Russell, Lisa J.; Bain, Robert; Moorman, Anthony V.; Bentley, David R.; Harrison, Christine J.; Ross, Mark T. 分享 收藏
Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial 在UKALL2003临床试验中缺乏遗传生物标志物的儿童急性淋巴细胞白血病的综合基因组分析 Schwab, Claire; Cranston, Ruth E. E.; Ryan, Sarra L. L.; Butler, Ellie; Winterman, Emily; Hawking, Zoe; Bashton, Matthew; Enshaei, Amir; Russell, Lisa J. J.; Kingsbury, Zoya; Peden, John F. F.; Barretta, Emilio; Murray, James; Gibson, Jude; Hinchliffe, Andrew C. C.; Bain, Robert; Vora, Ajay; Bentley, David R. R.; Ross, Mark T. T.; Moorman, Anthony V. V.; Harrison, Christine J. J. 分享 收藏
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features Robbe, Pauline; Ridout, Kate E.; Vavoulis, Dimitrios V.; Dreau, Helene; Kinnersley, Ben; Denny, Nicholas; Chubb, Daniel; Appleby, Niamh; Cutts, Anthony; Cornish, Alex J.; Lopez-Pascua, Laura; Clifford, Ruth; Burns, Adam; Stamatopoulos, Basile; Cabes, Maite; Alsolami, Reem; Antoniou, Pavlos; Oates, Melanie; Cavalieri, Doriane; Consortium, Genomics England Research; Consortium, Cll Pilot; Gibson, Jane; Prabhu, Anika, V; Schwessinger, Ron; Jennings, Daisy; James, Terena; Maheswari, Uma; Duran-Ferrer, Marti; Carninci, Piero; Knight, Samantha J. L.; Mansson, Robert; Hughes, Jim; Davies, James; Ross, Mark; Bentley, David; Strefford, Jonathan C.; Devereux, Stephen; Pettitt, Andrew R.; Hillmen, Peter; Caulfield, Mark J.; Houlston, Richard S.; Martin-Subero, Jose, I; Schuh, Anna 分享 收藏
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data 基于基因组测序数据的脊髓性肌萎缩症诊断及携带者筛选 Chen, Xiao; Sanchis-Juan, Alba; French, Courtney E.; Connell, Andrew J.; Delon, Isabelle; Kingsbury, Zoya; Chawla, Aditi; Halpern, Aaron L.; Taft, Ryan J.; Bentley, David R.; Butchbach, Matthew E. R.; Raymond, F. Lucy; Eberle, Michael A. 分享 收藏
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data ExpansionHunter Denovo: 一种在短读测序数据中定位已知和新颖重复扩增的计算方法 Dolzhenko, Egor; Bennett, Mark F.; Richmond, Phillip A.; Trost, Brett; Chen, Sai; van Vugt, Joke J. F. A.; Nguyen, Charlotte; Narzisi, Giuseppe; Gainullin, Vladimir G.; Gross, Andrew M.; Lajoie, Bryan R.; Taft, Ryan J.; Wasserman, Wyeth W.; Scherer, Stephen W.; Veldink, Jan H.; Bentley, David R.; Yuen, Ryan K. C.; Bahlo, Melanie; Eberle, Michael A. 分享 收藏
Paragraph: a graph-based structural variant genotyper for short-read sequence data 段落: 用于短读序列数据的基于图形的结构变体基因型 Chen, Sai; Krusche, Peter; Dolzhenko, Egor; Sherman, Rachel M.; Petrovski, Roman; Schlesinger, Felix; Kirsche, Melanie; Bentley, David R.; Schatz, Michael C.; Sedlazeck, Fritz J.; Eberle, Michael A. 分享 收藏
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease Gross, Andrew M.; Ajay, Subramanian S.; Rajan, Vani; Brown, Carolyn; Bluske, Krista; Burns, Nicole J.; Chawla, Aditi; Coffey, Alison J.; Malhotra, Alka; Scocchia, Alicia; Thorpe, Erin; Dzidic, Natasa; Hovanes, Karine; Sahoo, Trilochan; Dolzhenko, Egor; Lajoie, Bryan; Khouzam, Amirah; Chowdhury, Shimul; Belmont, John; Roller, Eric; Ivakhno, Sergii; Tanner, Stephen; McEachern, Julia; Hambuch, Tina; Eberle, Michael; Hagelstrom, R. Tanner; Bentley, David R.; Perry, Denise L.; Taft, Ryan J. 分享 收藏
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project 常规福尔马林固定石蜡包埋标本的临床全基因组测序: 100,000基因组计划的初步研究 Robbe, Pauline; Popitsch, Niko; Knight, Samantha J. L.; Antoniou, Pavlos; Becq, Jennifer; He, Miao; Kanapin, Alexander; Samsonova, Anastasia; Vavoulis, Dimitrios V.; Ross, Mark T.; Kingsbury, Zoya; Cabes, Maite; Ramos, Sara D. C.; Page, Suzanne; Dreau, Helene; Ridout, Kate; Jones, Louise J.; Tuff-Lacey, Alice; Henderson, Shirley; Mason, Joanne; Buffa, Francesca M.; Verrill, Clare; Maldonado-Perez, David; Roxanis, Ioannis; Collantes, Elena; Browning, Lisa; Dhar, Sunanda; Damato, Stephen; Davies, Susan; Caulfield, Mark; Bentley, David R.; Taylor, Jenny C.; Turnbull, Clare; Schuh, Anna 分享 收藏
Detection of long repeat expansions from PCR-free whole-genome sequence data 从无PCR的全基因组序列数据中检测长重复扩增 Dolzhenko, Egor; van Vugt, Joke J. F. A.; Shaw, Richard J.; Bekritsky, Mitchell A.; van Blitterswijk, Marka; Narzisi, Giuseppe; Ajay, Subramanian S.; Rajan, Vani; Lajoie, Bryan R.; Johnson, Nathan H.; Kingsbury, Zoya; Humphray, Sean J.; Schellevis, Raymond D.; Brands, William J.; Baker, Matt; Rademakers, Rosa; Kooyman, Maarten; Tazelaar, Gijs H. P.; van Es, Michael A.; McLaughlin, Russell; Sproviero, William; Shatunov, Aleksey; Jones, Ashley; Al Khleifat, Ahmad; Pittman, Alan; Morgan, Sarah; Hardiman, Orla; Al-Chalabi, Ammar; Shaw, Chris; Smith, Bradley; Neo, Edmund J.; Morrison, Karen; Shaw, Pamela J.; Reeves, Catherine; Winterkorn, Lara; Wexler, Nancy S.; Housman, David E.; Ng, Christopher W.; Li, Alina L.; Taft, Ryan J.; van den Berg, Leonard H.; Bentley, David R.; Veldink, Jan H.; Eberle, Michael A. 分享 收藏
A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree Eberle, Michael A.; Fritzilas, Epameinondas; Krusche, Peter; Kallberg, Morten; Moore, Benjamin L.; Bekritsky, Mitchell A.; Iqbal, Zamin; Chuang, Han-Yu; Humphray, Sean J.; Halpern, Aaron L.; Kruglyak, Semyon; Margulies, Elliott H.; McVean, Gil; Bentley, David R. 分享 收藏
The somatic mutation profiles of 2,433 breast cancers refine their genomic and transcriptomic landscapes (vol 7, 11479, 2016) Pereira, Bernard; Chin, Suet-Feung; Rueda, Oscar M.; Vollan, Hans-Kristian Moen; Provenzano, Elena; Bardwell, Helen A.; Pugh, Michelle; Jones, Linda; Russell, Roslin; Sammut, Stephen-John; Tsui, Dana W. Y.; Liu, Bin; Dawson, Sarah-Jane; Abraham, Jean; Northen, Helen; Peden, John F.; Mukherjee, Abhik; Turashvili, Gulisa; Green, Andrew R.; McKinney, Steve; Oloumi, Arusha; Shah, Sohrab; Rosenfeld, Nitzan; Murphy, Leigh; Bentley, David R.; Ellis, Ian O.; Purushotham, Arnie; Pinder, Sarah E.; Borresen-Dale, Anne-Lise; Earl, Helena M.; Pharoah, Paul D.; Ross, Mark T.; Aparicio, Samuel; Caldas, Carlos 分享 收藏
The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes 2,433乳腺癌的体细胞突变谱改善了它们的基因组和转录组景观 Pereira, Bernard; Chin, Suet-Feung; Rueda, Oscar M.; Vollan, Hans-Kristian Moen; Provenzano, Elena; Bardwell, Helen A.; Pugh, Michelle; Jones, Linda; Russell, Roslin; Sammut, Stephen-John; Tsui, Dana W. Y.; Liu, Bin; Dawson, Sarah-Jane; Abraham, Jean; Northen, Helen; Peden, John F.; Mukherjee, Abhik; Turashvili, Gulisa; Green, Andrew R.; McKinney, Steve; Oloumi, Arusha; Shah, Sohrab; Rosenfeld, Nitzan; Murphy, Leigh; Bentley, David R.; Ellis, Ian O.; Purushotham, Arnie; Pinder, Sarah E.; Borresen-Dale, Anne-Lise; Earl, Helena M.; Pharoah, Paul D.; Ross, Mark T.; Aparicio, Samuel; Caldas, Carlos 分享 收藏
Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer Murtaza, Muhammed; Dawson, Sarah-Jane; Pogrebniak, Katherine; Rueda, Oscar M.; Provenzano, Elena; Grant, John; Chin, Suet-Feung; Tsui, Dana W. Y.; Marass, Francesco; Gale, Davina; Ali, H. Raza; Shah, Pankti; Contente-Cuomo, Tania; Farahani, Hossein; Shumansky, Karey; Kingsbury, Zoya; Humphray, Sean; Bentley, David; Shah, Sohrab P.; Wallis, Matthew; Rosenfeld, Nitzan; Caldas, Carlos 分享 收藏
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders Taylor, Jenny C.; Martin, Hilary C.; Lise, Stefano; Broxholme, John; Cazier, Jean-Baptiste; Rimmer, Andy; Kanapin, Alexander; Lunter, Gerton; Fiddy, Simon; Allan, Chris; Aricescu, A. Radu; Attar, Moustafa; Babbs, Christian; Becq, Jennifer; Beeson, David; Bento, Celeste; Bignell, Patricia; Blair, Edward; Buckle, Veronica J.; Bull, Katherine; Cais, Ondrej; Cario, Holger; Chapel, Helen; Copley, Richard R.; Cornall, Richard; Craft, Jude; Dahan, Karin; Davenport, Emma E.; Dendrou, Calliope; Devuyst, Olivier; Fenwick, Aimee L.; Flint, Jonathan; Fugger, Lars; Gilbert, Rodney D.; Goriely, Anne; Green, Angie; Greger, Ingo H.; Grocock, Russell; Gruszczyk, Anja V.; Hastings, Robert; Hatton, Edouard; Higgs, Doug; Hill, Adrian; Holmes, Chris; Howard, Malcolm; Hughes, Linda; Humburg, Peter; Johnson, David; Karpe, Fredrik; Kingsbury, Zoya; Kini, Usha; Knight, Julian C.; Krohn, Jonathan; Lamble, Sarah; Langman, Craig; Lonie, Lorne; Luck, Joshua; McCarthy, Davis; McGowan, Simon J.; McMullin, Mary Frances; Miller, Kerry A.; Murray, Lisa; Nemeth, Andrea H.; Nesbit, M. Andrew; Nutt, David; Ormondroyd, Elizabeth; Oturai, Annette Bang; Pagnamenta, Alistair; Patel, Smita Y.; Percy, Melanie; Petousi, Nayia; Piazza, Paolo; Piret, Sian E.; Polanco-Echeverry, Guadalupe; Popitsch, Niko; Powrie, Fiona; Pugh, Chris; Quek, Lynn; Robbins, Peter A.; Robson, Kathryn; Russo, Alexandra; Sahgal, Natasha; van Schouwenburg, Pauline A.; Schuh, Anna; Silverman, Earl; Simmons, Alison; Sorensen, Per Soelberg; Sweeney, Elizabeth; Taylor, John; Thakker, Rajesh V.; Tomlinson, Ian; Trebes, Amy; Twigg, Stephen R. F.; Uhlig, Holm H.; Vyas, Paresh; Vyse, Tim; Wall, Steven A.; Watkins, Hugh; Whyte, Michael P.; Witty, Lorna; Wright, Ben; Yau, Chris; Buck, David; Humphray, Sean; Ratcliffe, Peter J.; Bell, John I.; Wilkie, Andrew O. M.; Bentley, David; Donnelly, Peter; McVean, Gilean 分享 收藏
An Enhancer Polymorphism at the Cardiomyocyte Intercalated Disc Protein NOS1AP Locus Is a Major Regulator of the QT Interval Kapoor, Ashish; Sekar, Rajesh B.; Hansen, Nancy F.; Fox-Talbot, Karen; Morley, Michael; Pihur, Vasyl; Chatterjee, Sumantra; Brandimarto, Jeffrey; Moravec, Christine S.; Pulit, Sara L.; Pfeufer, Arne; Mullikin, Jim; Ross, Mark; Green, Eric D.; Bentley, David; Newton-Cheh, Christopher; Boerwinkle, Eric; Tomaselli, Gordon F.; Cappola, Thomas P.; Arking, Dan E.; Halushka, Marc K.; Chakravarti, Aravinda 分享 收藏
APOBEC3B Upregulation and Genomic Mutation Patterns in Serous Ovarian Carcinoma Leonard, Brandon; Hart, Steven N.; Burns, Michael B.; Carpenter, Michael A.; Temiz, Nuri A.; Rathore, Anurag; Vogel, Rachel I.; Nikas, Jason B.; Law, Emily K.; Brown, William L.; Li, Ying; Zhang, Yuji; Maurer, Matthew J.; Oberg, Ann L.; Cunningham, Julie M.; Shridhar, Viji; Bell, Debra A.; April, Craig; Bentley, David; Bibikova, Marina; Cheetham, R. Keira; Fan, Jian-Bing; Grocock, Russell; Humphray, Sean; Kingsbury, Zoya; Peden, John; Chien, Jeremy; Swisher, Elizabeth M.; Hartmann, Lynn C.; Kalli, Kimberly R.; Goode, Ellen L.; Sicotte, Hugues; Kaufmann, Scott H.; Harris, Reuben S. 分享 收藏
Analysis of Circulating Tumor DNA to Monitor Metastatic Breast Cancer 循环肿瘤DNA分析监测转移性乳腺癌 Dawson, Sarah-Jane; Tsui, Dana W. Y.; Murtaza, Muhammed; Biggs, Heather; Rueda, Oscar M.; Chin, Suet-Feung; Dunning, Mark J.; Gale, Davina; Forshew, Tim; Mahler-Araujo, Betania; Rajan, Sabrina; Humphray, Sean; Becq, Jennifer; Halsall, David; Wallis, Matthew; Bentley, David; Caldas, Carlos; Rosenfeld, Nitzan 分享 收藏
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