368 results on '"POTAPOVA, Olga"'
Search Results
152. Antennas, focused in the near radiated field zone. Features and technical application
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Vedenkin, D. A.; Kazan National Research Technical University, Potapova, Olga V.; Kazan National Research Technical University, Sedelnikov, Yuriy E.; Kazan National Research Technical University, Vedenkin, D. A.; Kazan National Research Technical University, Potapova, Olga V.; Kazan National Research Technical University, and Sedelnikov, Yuriy E.; Kazan National Research Technical University more...
- Abstract
Some tasks call for to produce electromagnetic field with the desired spatial properties at the distance from aperture, commensurate with their geometric dimensions. The article discusses the most important of the properties of electromagnetic field, focused in this area of space. Scopes for the principles of focusing to active and passive radio-wave and acoustic Diagnostics, microwave application and radio communications are discussed. more...
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- 2014
153. Preliminary analyses of the frozen mummies of mammoth (Mammuthus primigenius), bison (Bison priscus) and horse (Equussp.) from the Yana-Indigirka Lowland, Yakutia, Russia
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BOESKOROV, Gennady G., primary, POTAPOVA, Olga R., additional, MASHCHENKO, Eugeny N., additional, PROTOPOPOV, Albert V., additional, KUZNETSOVA, Tatyana V., additional, AGENBROAD, Larry, additional, and TIKHONOV, Alexey N., additional more...
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- 2014
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154. Biospecimen reporting for improved study quality (BRISQ)
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University of Michigan Comprehensive Cancer Center, Ann Arbor, Michigan, Office of Biorepositories and Biospecimen Research, National Cancer Institute, Bethesda, Maryland, Rose Li and Associates, Inc, Bethesda, Maryland, Program for Biospecimen Science, Van Andel Research Institute, Grand Rapids, Michigan, Biometric Research Branch, Division of Cancer Treatment and Diagnosis, National Cancer Institute, Bethesda, Maryland, Department of Pathology, Johns Hopkins Hospital, Baltimore, Maryland ; Fax: (410) 614-9556 ; The Johns Hopkins Hospital, 600 N. Wolfe Street, PATH 406, Baltimore, MD 21287-6940, US Military Cancer Institute, Henry M. Jackson Foundation for the Advancement of Military Medicine, Rockville, Maryland, International Agency for Research on Cancer (IARC), World Health Organization, Lyon, France, Paula Kim, Inc, Translating Research Across Communities (TRAC), Solana Beach, California, Center for Devices and Radiological Health, US Food and Drug Administration, US Department of Health and Human Services, Silver Spring, Maryland, Cureline, Inc, South San Francisco, California, Erasmus MC Tissue Bank, Department of Pathology, Rotterdam, Netherlands, Office of Rare Diseases Research, National Institutes of Health, Bethesda, Maryland, H. Lee Moffitt Cancer Center & Research Institute, Tampa, Florida, Windber Research Institute, Windber, Pennsylvania, Vancouver Island Center, British Columbia Cancer Agency, Victoria, British Columbia, Canada, Life Sciences Division, Lawrence Berkeley National Laboratory, US Department of Energy, Berkeley, California, Division of Cancer Prevention, National Cancer Institute, Bethesda, Maryland, Moore, Helen M., Kelly, Andrea B., Jewell, Scott D., McShane, Lisa M., Clark, Douglas P., Greenspan, Renata, Hayes, Daniel F., Hainaut, Pierre, Kim, Paula, Mansfield, Elizabeth A., Potapova, Olga, Riegman, Peter, Rubinstein, Yaffa, Seijo, Edward, Somiari, Stella, Watson, Peter, Weier, Heinz-Ulrich, Zhu, Claire, Vaught, Jim, University of Michigan Comprehensive Cancer Center, Ann Arbor, Michigan, Office of Biorepositories and Biospecimen Research, National Cancer Institute, Bethesda, Maryland, Rose Li and Associates, Inc, Bethesda, Maryland, Program for Biospecimen Science, Van Andel Research Institute, Grand Rapids, Michigan, Biometric Research Branch, Division of Cancer Treatment and Diagnosis, National Cancer Institute, Bethesda, Maryland, Department of Pathology, Johns Hopkins Hospital, Baltimore, Maryland ; Fax: (410) 614-9556 ; The Johns Hopkins Hospital, 600 N. Wolfe Street, PATH 406, Baltimore, MD 21287-6940, US Military Cancer Institute, Henry M. Jackson Foundation for the Advancement of Military Medicine, Rockville, Maryland, International Agency for Research on Cancer (IARC), World Health Organization, Lyon, France, Paula Kim, Inc, Translating Research Across Communities (TRAC), Solana Beach, California, Center for Devices and Radiological Health, US Food and Drug Administration, US Department of Health and Human Services, Silver Spring, Maryland, Cureline, Inc, South San Francisco, California, Erasmus MC Tissue Bank, Department of Pathology, Rotterdam, Netherlands, Office of Rare Diseases Research, National Institutes of Health, Bethesda, Maryland, H. Lee Moffitt Cancer Center & Research Institute, Tampa, Florida, Windber Research Institute, Windber, Pennsylvania, Vancouver Island Center, British Columbia Cancer Agency, Victoria, British Columbia, Canada, Life Sciences Division, Lawrence Berkeley National Laboratory, US Department of Energy, Berkeley, California, Division of Cancer Prevention, National Cancer Institute, Bethesda, Maryland, Moore, Helen M., Kelly, Andrea B., Jewell, Scott D., McShane, Lisa M., Clark, Douglas P., Greenspan, Renata, Hayes, Daniel F., Hainaut, Pierre, Kim, Paula, Mansfield, Elizabeth A., Potapova, Olga, Riegman, Peter, Rubinstein, Yaffa, Seijo, Edward, Somiari, Stella, Watson, Peter, Weier, Heinz-Ulrich, Zhu, Claire, and Vaught, Jim more...
- Abstract
Human biospecimens are subjected to collection, processing, and storage that can significantly alter their molecular composition and consistency. These biospecimen preanalytical factors, in turn, influence experimental outcomes and the ability to reproduce scientific results. Currently, the extent and type of information specific to the biospecimen preanalytical conditions reported in scientific publications and regulatory submissions varies widely. To improve the quality of research that uses human tissues, it is crucial that information on the handling of biospecimens be reported in a thorough, accurate, and standardized manner. The Biospecimen Reporting for Improved Study Quality (BRISQ) recommendations outlined herein are intended to apply to any study in which human biospecimens are used. The purpose of reporting these details is to supply others, from researchers to regulators, with more consistent and standardized information to better evaluate, interpret, compare, and reproduce the experimental results. The BRISQ guidelines are proposed as an important and timely resource tool to strengthen communication and publications on biospecimen-related research and to help reassure patient contributors and the advocacy community that their contributions are valued and respected. Cancer (Cancer Cytopathol) 2011. Published 2011 by the American Cancer Society. more...
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- 2011
155. Biospecimen Reporting for Improved Study Quality
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Moore, Helen M., Kelly, Andrea, Jewell, Scott D., McShane, Lisa M., Clark, Douglas P., Greenspan, Renata, Hainaut, Pierre, Hayes, Daniel F., Kim, Paula, Mansfield, Elizabeth, Potapova, Olga, Riegman, Peter, Rubinstein, Yaffa, Seijo, Edward, Somiari, Stella, Watson, Peter, Weier, Heinz Ulrich, Zhu, Claire, Vaught, Jim, Moore, Helen M., Kelly, Andrea, Jewell, Scott D., McShane, Lisa M., Clark, Douglas P., Greenspan, Renata, Hainaut, Pierre, Hayes, Daniel F., Kim, Paula, Mansfield, Elizabeth, Potapova, Olga, Riegman, Peter, Rubinstein, Yaffa, Seijo, Edward, Somiari, Stella, Watson, Peter, Weier, Heinz Ulrich, Zhu, Claire, and Vaught, Jim more...
- Abstract
Human biospecimens are subject to a number of different collection, processing, and storage factors that can significantly alter their molecular composition and consistency. These biospecimen preanalytical factors, in turn, influence experimental outcomes and the ability to reproduce scientific results. Currently, the extent and type of information specific to the biospecimen preanalytical conditions reported in scientific publications and regulatory submissions varies widely. To improve the quality of research utilizing human tissues, it is critical that information regarding the handling of biospecimens be reported in a thorough, accurate, and standardized manner. The Biospecimen Reporting for Improved Study Quality recommendations outlined herein are intended to apply to any study in which human biospecimens are used. The purpose of reporting these details is to supply others, from researchers to regulators, with more consistent and standardized information to better evaluate, interpret, compare, and reproduce the experimental results. The Biospecimen Reporting for Improved Study Quality guidelines are proposed as an important and timely resource tool to strengthen communication and publications around biospecimen-related research and help reassure patient contributors and the advocacy community that the contributions are valued and respected. more...
- Published
- 2011
156. Improvement of microwave equipment excitation efficiency using methods of focused arrays
- Author
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Morozov, Gennadiy A., Potapova, Olga V., and Sedelnikov, Yuriy E.
- Abstract
The problem of multielement excitation of exposed-type microwave equipment is studied. Optimization problem is formulated as amplitudes, phases and elements location definition to maximize the special efficiency criteria. Both coherent and noncoherent multielement excitation are considered. Substantial improvement of microwave field excitation can be achieved by proposed approach. A number of particular optimization procedures advantageous for practical use is presented. more...
- Published
- 1999
157. Hepatitis C Virus RNA Replication and Virus Particle Assembly Require Specific Dimerization of the NS4A Protein Transmembrane Domain
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Kohlway, Andrew, primary, Pirakitikulr, Nathan, additional, Barrera, Francisco N., additional, Potapova, Olga, additional, Engelman, Donald M., additional, Pyle, Anna M., additional, and Lindenbach, Brett D., additional more...
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- 2014
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158. Conformational landscapes of DNA polymerase I and mutator derivatives establish fidelity checkpoints for nucleotide insertion
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Hohlbein, Johannes, primary, Aigrain, Louise, additional, Craggs, Timothy D., additional, Bermek, Oya, additional, Potapova, Olga, additional, Shoolizadeh, Pouya, additional, Grindley, Nigel D. F., additional, Joyce, Catherine M., additional, and Kapanidis, Achillefs N., additional more...
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- 2013
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159. The effect of folate-related SNPs on clinicopathological features, response to neoadjuvant treatment and survival in pre- and postmenopausal breast cancer patients
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Babyshkina, Nataliya, primary, Malinovskaya, Elena, additional, Nazarenko, Mariya, additional, Koval, Mariya, additional, Gervas, Polina, additional, Potapova, Olga, additional, Slonimskaya, Elena, additional, and Cherdyntseva, Nadejda, additional more...
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- 2013
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160. Abstract 5127: Incidence of molecular variants with and without Her-2-Neu expression and amplification in brain metastases of breast carcinoma and its prognostic significance.
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Rotin, Daniil, primary, Paklina, Oxana, additional, Lobanova, NV, additional, Kobyakov, GL, additional, and Potapova, Olga, additional
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- 2013
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161. Selective RNA targeting and regulated signaling by RIG-I is controlled by coordination of RNA and ATP binding.
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Fitzgerald, Megan E., Rawling, David C., Potapova, Olga, Ren, Xiaoming, Kohlway, Andrew, and Pyle, Anna Marie
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- 2017
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162. IMPROVING CHARACTERISTICS OF MICROWAVE RADIO THERMOGRAPHS FOR MEDICAL USE
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vskublanov, Vladimir S., primary, Potapova, Olga V., additional, Sedelnikov, Yury E., additional, and Syskov, Alexey M., additional
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- 2013
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163. Kinetic Analysis of the Unique Error Signature of Human DNA Polymerase ν
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Arana, Mercedes E., primary, Potapova, Olga, additional, Kunkel, Thomas A., additional, and Joyce, Catherine M., additional
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- 2011
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164. Biospecimen Reporting for Improved Study Quality (BRISQ)
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Moore, Helen M., primary, Kelly, Andrea B., additional, Jewell, Scott D., additional, McShane, Lisa M., additional, Clark, Douglas P., additional, Greenspan, Renata, additional, Hayes, Daniel F., additional, Hainaut, Pierre, additional, Kim, Paula, additional, Mansfield, Elizabeth, additional, Potapova, Olga, additional, Riegman, Peter, additional, Rubinstein, Yaffa, additional, Seijo, Edward, additional, Somiari, Stella, additional, Watson, Peter, additional, Weier, Heinz-Ulrich, additional, Zhu, Claire, additional, and Vaught, Jim, additional more...
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- 2011
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165. Biospecimen Reporting for Improved Study Quality
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Moore, Helen M., primary, Kelly, Andrea, additional, Jewell, Scott D., additional, McShane, Lisa M., additional, Clark, Douglas P., additional, Greenspan, Renata, additional, Hainaut, Pierre, additional, Hayes, Daniel F., additional, Kim, Paula, additional, Mansfield, Elizabeth, additional, Potapova, Olga, additional, Riegman, Peter, additional, Rubinstein, Yaffa, additional, Seijo, Edward, additional, Somiari, Stella, additional, Watson, Peter, additional, Weier, Heinz-Ulrich, additional, Zhu, Claire, additional, and Vaught, Jim, additional more...
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- 2011
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166. Novel Conformational States in Mutator DNA Polymerases Observed Using Single-Molecule FRET
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Hohlbein, Johannes, primary, Joyce, Catherine M., additional, Shoolizadeh, Pouya, additional, Evans, Geraint, additional, Potapova, Olga, additional, Bermek, Oya, additional, Duchillumigusin, Diego, additional, Grindley, Nigel D.F., additional, and Kapanidis, Achillefs N., additional more...
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- 2011
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167. Comparison of the efficiency of various optimization methods in the problems of the focused aperture
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In summary, the author expresses gratitude to Prof. Sedelnikov Yu. E. for discussion and useful councils, and to Prof. Morozov G. A. for support in work., Potapova, Olga V.; Kazan National Research Technical University, In summary, the author expresses gratitude to Prof. Sedelnikov Yu. E. for discussion and useful councils, and to Prof. Morozov G. A. for support in work., and Potapova, Olga V.; Kazan National Research Technical University more...
- Abstract
Comparison of the efficiency of various optimization methods in the problems of the focused aperture was performed. The microwave installations of exposed-type with a coherent and a non-coherent excitation of the radiators are considered. The problems of two types (the focusing in a small and in an extended area) are solved. more...
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- 2003
168. Human biospecimens collection in the era of Personalized Medicine: challenges and perspectives
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Potapova, Olga, primary
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- 2010
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169. Separating Static and Dynamic Heterogeneity in Single-Molecule FRET Experiments with Burst Variance Analysis (BVA)
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Torella, Joseph P., primary, Santoso, Yusdi, additional, Holden, Seamus J., additional, Hohlbein, Johannes, additional, Joyce, Catherine M., additional, Potapova, Olga, additional, Grindley, Nigel D.F., additional, and Kapanidis, Achillefs N., additional more...
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- 2010
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170. Conformational Changes in DNA Polymerase I Revealed by Single-Molecule FRET
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Santoso, Yusdi, primary, Joyce, Catherine M., additional, Potapova, Olga, additional, Le Reste, Ludovic, additional, Hohlbein, Johannes, additional, Torella, Joseph P., additional, Grindley, Nigel D.F., additional, and Kapanidis, Achillefs N., additional more...
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- 2010
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171. Towards Dark Quencher Based Real Time DNA Sequencing
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Hohlbein, Johannes, primary, Le Reste, Ludovic, additional, Potapova, Olga, additional, Joyce, Catherine, additional, El-Sagheer, Afaf H., additional, Brown, Tom, additional, and Kapanidis, Achillefs N., additional more...
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- 2010
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172. Conformational transitions in DNA polymerase I revealed by single-molecule FRET
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Santoso, Yusdi, primary, Joyce, Catherine M., additional, Potapova, Olga, additional, Le Reste, Ludovic, additional, Hohlbein, Johannes, additional, Torella, Joseph P., additional, Grindley, Nigel D. F., additional, and Kapanidis, Achillefs N., additional more...
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- 2009
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173. Shear Strength of Exterior Plywood Panels Pressed at Low Temperature
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Bekhta, Pavlo, primary, Hiziroglu, Salim, additional, Potapova, Olga, additional, and Sedliacik, Jan, additional
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- 2009
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174. Contribution of individual targets to the antitumor efficacy of the multitargeted receptor tyrosine kinase inhibitor SU11248
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Potapova, Olga, primary, Laird, A. Douglas, additional, Nannini, Michelle A., additional, Barone, Angela, additional, Li, Guangmin, additional, Moss, Katherine G., additional, Cherrington, Julie M., additional, and Mendel, Dirk B., additional more...
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- 2006
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175. DNA Polymerase Catalysis in the Absence of Watson−Crick Hydrogen Bonds: Analysis by Single-Turnover Kinetics
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Potapova, Olga, primary, Chan, Chikio, additional, DeLucia, Angela M., additional, Helquist, Sandra A., additional, Kool, Eric T., additional, Grindley, Nigel D. F., additional, and Joyce, Catherine M., additional more...
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- 2005
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176. Improvement of microwave equipment excitation efficiency using methods of focused arrays
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Morozov, Gennadiy A.; Kazan National Research Technical University, Potapova, Olga V.; Kazan National Research Technical University, Sedelnikov, Yuriy E.; Kazan National Research Technical University, Morozov, Gennadiy A.; Kazan National Research Technical University, Potapova, Olga V.; Kazan National Research Technical University, and Sedelnikov, Yuriy E.; Kazan National Research Technical University more...
- Abstract
The problem of multielement excitation of exposed-type microwave equipment is studied. Optimization problem is formulated as amplitudes, phases and elements location definition to maximize the special efficiency criteria. Both coherent and noncoherent multielement excitation are considered. Substantial improvement of microwave field excitation can be achieved by proposed approach. A number of particular optimization procedures advantageous for practical use is presented. more...
- Published
- 1999
177. The hSK4 (KCNN4) isoform is the Ca 2 + -activated K + channel (Gardos channel) in human red blood cells
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Hoffman, Joseph F., primary, Joiner, William, additional, Nehrke, Keith, additional, Potapova, Olga, additional, Foye, Kristen, additional, and Wickrema, Amittha, additional
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- 2003
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178. Jun NH2-Terminal Kinase Phosphorylation of p53 on Thr-81 Is Important for p53 Stabilization and Transcriptional Activities in Response to Stress
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Buschmann, Thomas, primary, Potapova, Olga, additional, Bar-Shira, Anat, additional, Ivanov, Vladimir N., additional, Fuchs, Serge Y., additional, Henderson, Scott, additional, Fried, Victor A., additional, Minamoto, Toshinari, additional, Alarcon-Vargas, Dania, additional, Pincus, Matthew R., additional, Gaarde, William A., additional, Holbrook, Nikki J., additional, Shiloh, Yosef, additional, and Ronai, Ze'ev, additional more...
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- 2001
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179. Inhibition of c-Jun N-Terminal Kinase 2 Expression Suppresses Growth and Induces Apoptosis of Human Tumor Cells in a p53-Dependent Manner
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Potapova, Olga, primary, Gorospe, Myriam, additional, Dougherty, Ryan H., additional, Dean, Nicholas M., additional, Gaarde, William A., additional, and Holbrook, Nikki J., additional
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- 2000
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180. Preliminary analyses of the frozen mummies of mammoth ( Mammuthus primigenius), bison ( Bison priscus) and horse ( Equus sp.) from the Yana-Indigirka Lowland, Yakutia, Russia.
- Author
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BOESKOROV, Gennady G., POTAPOVA, Olga R., MASHCHENKO, Eugeny N., PROTOPOPOV, Albert V., KUZNETSOVA, Tatyana V., AGENBROAD, Larry, and TIKHONOV, Alexey N.
- Subjects
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WOOLLY mammoth , *STEPPE bison , *EQUUS , *MUMMIFIED animals , *TISSUES , *HOLOCENE Epoch , *PLEISTOCENE Epoch - Abstract
The frozen bodies of a young woolly mammoth ( Mammuthus primigenius), a wild horse ( Equus sp.) and a steppe bison ( Bison priscus) were recently found in the northern Yakutia (northeastern Siberia). All specimens have preserved bones, skin and soft tissues. Whereas the woolly mammoth and the Pleistocene horse were represented by partial frozen bodies, the steppe bison body was recovered in an absolutely complete state. All specimens were found frozen in the permafrost, with some of the tissues mummified. The wild horse and steppe bison are of Holocene age, and the mammoth is of Late Pleistocene age. [ABSTRACT FROM AUTHOR] more...
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- 2014
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181. The Jun Kinase 2 Isoform Is Preferentially Required for Epidermal Growth Factor-Induced Transformation of Human A549 Lung Carcinoma Cells
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Bost, Frédéric, primary, McKay, Robert, additional, Bost, Myriam, additional, Potapova, Olga, additional, Dean, Nicholas M., additional, and Mercola, Dan, additional
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- 1999
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182. The Jun Kinase/Stress-activated Protein Kinase Pathway Functions to Regulate DNA Repair and Inhibition of the Pathway Sensitizes Tumor Cells to Cisplatin
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Potapova, Olga, primary, Haghighi, Ali, additional, Bost, Frédéric, additional, Liu, Chaoting, additional, Birrer, Michael J., additional, Gjerset, Ruth, additional, and Mercola, Dan, additional
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- 1997
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183. Growth factor PDGF-B/v-sis confers a tumorigenic phenotype to human tumor cells bearing PDGF receptors but not to cells devoid of receptors: Evidence for an autocrine, but not a paracrine, mechanism
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Potapova, Olga, primary, Fakhrai, Habib, additional, and Mercola, Dan, additional
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- 1996
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184. Superconducting shields and manufactured ceramic wares of complex configuration
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Fedorov, Vladimir E., primary, Pletnev, Peter M., additional, Korpachev, Michael G., additional, Korpacheva, Anastasiya I., additional, Mazhara, Anatoly P., additional, Dikovskij, Valery Ja., additional, Gindulina, Venera Z., additional, and Potapova, Olga G., additional more...
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- 1991
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185. Vertebrate remains from the Mousterian site of Il'skaya I (northern Caucasus, U.S.S.R.): New analysis and interpretation
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Hoffecker, John F., primary, Baryshnikov, Gennady, additional, and Potapova, Olga, additional
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- 1991
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186. The hSK4 (KCNN4) isoform is the Ca[sup 2+]-activated K[sup +] channel (Gardos channel) in human red blood cells.
- Author
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Hoffman, Joseph F., Joiner, William, Nehrke, Keith, Potapova, Olga, Foye, Kristen, and Wickrema, Amittha
- Subjects
POTASSIUM channels ,ERYTHROCYTES - Abstract
The question is, does the isoform hSK4, also designated KCNN4, represent the small conductance, Ca[sup 2+]-activated K[sup +] channel (Gardos channel) in human red blood cells? We have analyzed human reticulocyte RNA by RT-PCR, and, of the four isoforms of SK channels known, only SK4 was found. Northern blot analysis of purified and synchronously growing human erythroid progenitor cells, differentiating from erythroblasts to reticulocytes, again showed only the presence of SK4. Western blot analysis, with an anti-SK4 antibody, showed that human erythroid progenitor cells and, importantly, mature human red blood cell ghost membranes, both expressed the SK4 protein. The Gardos channel is known to turn on, given inside Ca[sup 2+], in the presence but not the absence of external K[sup +, sub o] and remains refractory to K[sup +, sub o] added after exposure to inside Ca[sup 2+]. Heterologously expressed SK4, but not SK3, also shows this behavior. In inside-out patches of red cell membranes, the open probability (P[sub o]) of the Gardos channel is markedly reduced when the temperature is raised from 27 to 37°C. Net K[sup +] efflux of intact red cells is also reduced by increasing temperature, as are the P[sub o] values of inside-out patches of Chinese hamster ovary cells expressing SK4 (but not SK3). Thus the envelope of evidence indicates that SK4 is the gene that codes for the Gardos channel in human red blood cells. This channel is important pathophysiologically, because it represents the major pathway for cell shrinkage via KCl and water loss that occurs in sickle cell disease. [ABSTRACT FROM AUTHOR] more...
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- 2003
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187. 3'–5' Exonuclease of Klenow Fragment: Role of Amino Acid Residues within the Single-Stranded DNA Binding in Exonucleolysis and Duplex DNA Melting.
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Wai-Chung Lam, Thompson, Elizabeth H.Z., Potapova, Olga, Xiaojun Chen Sun, Joyce, Catherine M., and Millar, David P.
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- 2002
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188. Initiation of G2/M checkpoint after ultraviolet radiation requires p38 kinase.
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Bulavin, Dmitry V., Higashimoto, Yuichiro, Popoff, Ian J., Gaarde, William A., Basrur, Venkatesha, Potapova, Olga, Appella, Ettore, and Fornace Jr., Albert J.
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GENETIC toxicology ,PROTEIN kinases - Abstract
Presents a study about the role of p38 kinase in the delay of genotoxic stress after ultraviolet radiation. Research methodology; Results and discussion; Conclusions.
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- 2001
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189. Exploring Molecular Pathways of Triple-Negative Breast Cancer
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Ossovskaya, Valeria, Wang, Yipeng, Budoff, Adam, Xu, Qiang, Lituev, Alexander, Potapova, Olga, Vansant, Gordon, Monforte, Joseph, and Daraselia, Nikolai
- Abstract
Triple-negative breast cancer (TNBC) is an aggressive breast cancer subtype with a high rate of proliferation and metastasis, as well as poor prognosis for advanced-stage disease. Although TNBC was previously classified together with basal-like and BRCA1/2-related breast cancers, genomic profiling now shows that there is incomplete overlap, with important distinctions associated with each subtype. The biology of TNBC is still poorly understood; therefore, to define the relative contributions of major cellular pathways in TNBC, we have studied its molecular signature based on analysis of gene expression. Comparisons were then made with normal breast tissue. Our results suggest the existence of molecular networks in TNBC, characterized by explicit alterations in the cell cycle, DNA repair, nucleotide synthesis, metabolic pathways, NF-?B signaling, inflammatory response, and angiogenesis. Moreover, we also characterized TNBC as a cancer of mixed phenotypes, suggesting that TNBC extends beyond the basal-like molecular signature and may constitute an independent subtype of breast cancer. The data provide a new insight into the biology of TNBC. more...
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- 2011
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190. Comprehensive molecular characterization of gastric adenocarcinoma
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Bass, Adam J., Thorsson, Vesteinn, Shmulevich, Ilya, Reynolds, Sheila M., Miller, Michael, Bernard, Brady, Hinoue, Toshinori, Laird, Peter W., Curtis, Christina, Shen, Hui, Weisenberger, Daniel J., Schultz, Nikolaus, Shen, Ronglai, Weinhold, Nils, Kelsen, David P., Bowlby, Reanne, Chu, Andy, Kasaian, Katayoon, Mungall, Andrew J., Robertson, A. Gordon, Sipahimalani, Payal, Cherniack, Andrew, Getz, Gad, Liu, Yingchun, Noble, Michael S., Pedamallu, Chandra, Sougnez, Carrie, Taylor-Weiner, Amaro, Akbani, Rehan, Lee, Ju-Seog, Liu, Wenbin, Mills, Gordon B., Yang, Da, Zhang, Wei, Pantazi, Angeliki, Parfenov, Michael, Gulley, Margaret, Piazuelo, M. Blanca, Schneider, Barbara G., Kim, Jihun, Boussioutas, Alex, Sheth, Margi, Demchok, John A., Rabkin, Charles S., Willis, Joseph E., Ng, Sam, Garman, Katherine, Beer, David G., Pennathur, Arjun, Raphael, Benjamin J., Wu, Hsin-Ta, Odze, Robert, Kim, Hark K., Bowen, Jay, Leraas, Kristen M., Lichtenberg, Tara M., Weaver, Stephanie, McLellan, Michael, Wiznerowicz, Maciej, Sakai, Ryo, Lawrence, Michael S., Cibulskis, Kristian, Lichtenstein, Lee, Fisher, Sheila, Gabriel, Stacey B., Lander, Eric S., Ding, Li, Niu, Beifang, Ally, Adrian, Balasundaram, Miruna, Birol, Inanc, Brooks, Denise, Butterfield, Yaron S. N., Carlsen, Rebecca, Chu, Justin, Chuah, Eric, Chun, Hye-Jung E., Clarke, Amanda, Dhalla, Noreen, Guin, Ranabir, Holt, Robert A., Jones, Steven J.M., Lee, Darlene, Li, Haiyan A., Lim, Emilia, Ma, Yussanne, Marra, Marco A., Mayo, Michael, Moore, Richard A., Mungall, Karen L., Nip, Ka Ming, Schein, Jacqueline E., Tam, Angela, Thiessen, Nina, Beroukhim, Rameen, Carter, Scott L., Cherniack, Andrew D., Cho, Juok, DiCara, Daniel, Frazer, Scott, Gehlenborg, Nils, Heiman, David I., Jung, Joonil, Kim, Jaegil, Lin, Pei, Meyerson, Matthew, Ojesina, Akinyemi I., Pedamallu, Chandra Sekhar, Saksena, Gordon, Schumacher, Steven E., Stojanov, Petar, Tabak, Barbara, Voet, Doug, Rosenberg, Mara, Zack, Travis I., Zhang, Hailei, Zou, Lihua, Protopopov, Alexei, Santoso, Netty, Lee, Semin, Zhang, Jianhua, Mahadeshwar, Harshad S., Tang, Jiabin, Ren, Xiaojia, Seth, Sahil, Yang, Lixing, Xu, Andrew W., Song, Xingzhi, Xi, Ruibin, Bristow, Christopher A., Hadjipanayis, Angela, Seidman, Jonathan, Chin, Lynda, Park, Peter J., Kucherlapati, Raju, Ling, Shiyun, Rao, Arvind, Weinstein, John N., Kim, Sang-Bae, Lu, Yiling, Mills, Gordon, Bootwalla, Moiz S., Lai, Phillip H., Triche, Timothy, Van Den Berg, David J., Baylin, Stephen B., Herman, James G., Murray, Bradley A., Askoy, B. Arman, Ciriello, Giovanni, Dresdner, Gideon, Gao, Jianjiong, Gross, Benjamin, Jacobsen, Anders, Lee, William, Ramirez, Ricardo, Sander, Chris, Senbabaoglu, Yasin, Sinha, Rileen, Sumer, S. Onur, Sun, Yichao, Thorsson, Vésteinn, Iype, Lisa, Kramer, Roger W., Kreisberg, Richard, Rovira, Hector, Tasman, Natalie, Ng, Santa Cruz Sam, Haussler, David, Stuart, Josh M., Verhaak, Roeland G.W., Leiserson, Mark D. M., Taylor, Barry S., Black, Aaron D., Carney, Julie Ann, Gastier-Foster, Julie M., Helsel, Carmen, McAllister, Cynthia, Ramirez, Nilsa C., Tabler, Teresa R., Wise, Lisa, Zmuda, Erik, Penny, Robert, Crain, Daniel, Gardner, Johanna, Lau, Kevin, Curely, Erin, Mallery, David, Morris, Scott, Paulauskis, Joseph, Shelton, Troy, Shelton, Candace, Sherman, Mark, Benz, Christopher, Lee, Jae-Hyuk, Fedosenko, Konstantin, Manikhas, Georgy, Potapova, Olga, Voronina, Olga, Belyaev, Smitry, Dolzhansky, Oleg, Rathmell, W. Kimryn, Brzezinski, Jakub, Ibbs, Matthew, Korski, Konstanty, Kycler, Witold, ŁaŸniak, Radoslaw, Leporowska, Ewa, Mackiewicz, Andrzej, Murawa, Dawid, Murawa, Pawel, Spychała, Arkadiusz, Suchorska, Wiktoria M., Tatka, Honorata, Teresiak, Marek, Abdel-Misih, Raafat, Bennett, Joseph, Brown, Jennifer, Iacocca, Mary, Rabeno, Brenda, Kwon, Sun-Young, Kemkes, Ariane, Curley, Erin, Alexopoulou, Iakovina, Engel, Jay, Bartlett, John, Albert, Monique, Park, Do-Youn, Dhir, Rajiv, Luketich, James, Landreneau, Rodney, Janjigian, Yelena Y., Cho, Eunjung, Ladanyi, Marc, Tang, Laura, McCall, Shannon J., Park, Young S., Cheong, Jae-Ho, Ajani, Jaffer, Camargo, M. Constanza, Alonso, Shelley, Ayala, Brenda, Jensen, Mark A., Pihl, Todd, Raman, Rohini, Walton, Jessica, Wan, Yunhu, Eley, Greg, Mills Shaw, Kenna R., Tarnuzzer, Roy, Wang, Zhining, Yang, Liming, Zenklusen, Jean Claude, Davidsen, Tanja, Hutter, Carolyn M., Sofia, Heidi J., Burton, Robert, Chudamani, Sudha, and Liu, Jia more...
- Abstract
Gastric cancer is a leading cause of cancer deaths, but analysis of its molecular and clinical characteristics has been complicated by histological and aetiological heterogeneity. Here we describe a comprehensive molecular evaluation of 295 primary gastric adenocarcinomas as part of The Cancer Genome Atlas (TCGA) project. We propose a molecular classification dividing gastric cancer into four subtypes: tumours positive for Epstein–Barr virus, which display recurrent PIK3CA mutations, extreme DNA hypermethylation, and amplification of JAK2, CD274 (also known as PD-L1) and PDCD1LG2 (also knownasPD-L2); microsatellite unstable tumours, which show elevated mutation rates, including mutations of genes encoding targetable oncogenic signalling proteins; genomically stable tumours, which are enriched for the diffuse histological variant and mutations of RHOA or fusions involving RHO-family GTPase-activating proteins; and tumours with chromosomal instability, which show marked aneuploidy and focal amplification of receptor tyrosine kinases. Identification of these subtypes provides a roadmap for patient stratification and trials of targeted therapies. more...
- Published
- 2014
- Full Text
- View/download PDF
191. Sex differences in oncogenic mutational processes
- Author
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Prokopec, Stephenie D., Sun, Ren X., Yousif, Fouad, Schmitz, Nathaniel, Al-Shahrour, Fatima, Atwal, Gurnit, Bailey, Peter J., Biankin, Andrew V., Boutros, Paul C., Campbell, Peter J., Chang, David K., Cooke, Susanna L., Deshpande, Vikram, Faltas, Bishoy M., Faquin, William C., Garraway, Levi, Getz, Gad, Grimmond, Sean M., Haider, Syed, Hoadley, Katherine A., Jiao, Wei, Kaiser, Vera B., Karlić, Rosa, Kato, Mamoru, Kübler, Kirsten, Lazar, Alexander J., Li, Constance H., Louis, David N., Margolin, Adam, Martin, Sancha, Nahal-Bose, Hardeep K., Nielsen, G. Petur, Nik-Zainal, Serena, Omberg, Larsson, P’ng, Christine, Perry, Marc D., Polak, Paz, Rheinbay, Esther, Rubin, Mark A., Semple, Colin A., Sgroi, Dennis C., Shibata, Tatsuhiro, Siebert, Reiner, Smith, Jaclyn, Stein, Lincoln D., Stobbe, Miranda D., Thai, Kevin, Wright, Derek W., Wu, Chin-Lee, Yuan, Ke, Zhang, Junjun, Aaltonen, Lauri A., Abascal, Federico, Abeshouse, Adam, Aburatani, Hiroyuki, Adams, David J., Agrawal, Nishant, Ahn, Keun Soo, Ahn, Sung-Min, Aikata, Hiroshi, Akbani, Rehan, Akdemir, Kadir C., Al-Ahmadie, Hikmat, Al-Sedairy, Sultan T., Alawi, Malik, Albert, Monique, Aldape, Kenneth, Alexandrov, Ludmil B., Ally, Adrian, Alsop, Kathryn, Alvarez, Eva G., Amary, Fernanda, Amin, Samirkumar B., Aminou, Brice, Ammerpohl, Ole, Anderson, Matthew J., Ang, Yeng, Antonello, Davide, Anur, Pavana, Aparicio, Samuel, Appelbaum, Elizabeth L., Arai, Yasuhito, Aretz, Axel, Arihiro, Koji, Ariizumi, Shun-Ichi, Armenia, Joshua, Arnould, Laurent, Asa, Sylvia, Assenov, Yassen, Aukema, Sietse, Auman, J. Todd, Aure, Miriam R., Awadalla, Philip, Aymerich, Marta, Bader, Gary D., Baez-Ortega, Adrian, Bailey, Matthew H., Balasundaram, Miruna, Balu, Saianand, Bandopadhayay, Pratiti, Banks, Rosamonde E., Barbi, Stefano, Barbour, Andrew P., Barenboim, Jonathan, Barnholtz-Sloan, Jill, Barr, Hugh, Barrera, Elisabet, Bartlett, John, Bartolome, Javier, Bassi, Claudio, Bathe, Oliver F., Baumhoer, Daniel, Bavi, Prashant, Baylin, Stephen B., Bazant, Wojciech, Beardsmore, Duncan, Beck, Timothy A., Behjati, Sam, Behren, Andreas, Niu, Beifang, Bell, Cindy, Beltran, Sergi, Benz, Christopher, Berchuck, Andrew, Bergmann, Anke K., Bergstrom, Erik N., Berman, Benjamin P., Berney, Daniel M., Bernhart, Stephan H., Beroukhim, Rameen, Berrios, Mario, Bersani, Samantha, Bertl, Johanna, Betancourt, Miguel, Bhandari, Vinayak, Bhosle, Shriram G., Bieg, Matthias, Bigner, Darell, Binder, Hans, Birney, Ewan, Birrer, Michael, Biswas, Nidhan K., Bjerkehagen, Bodil, Bodenheimer, Tom, Boice, Lori, Bonizzato, Giada, De Bono, Johann S., Boot, Arnoud, Bootwalla, Moiz S., Borg, Ake, Borkhardt, Arndt, Boroevich, Keith A., Borozan, Ivan, Borst, Christoph, Bosenberg, Marcus, Bosio, Mattia, Boultwood, Jacqueline, Bourque, Guillaume, Bova, G. Steven, Bowen, David T., Bowlby, Reanne, Bowtell, David D. L., Boyault, Sandrine, Boyce, Rich, Boyd, Jeffrey, Brazma, Alvis, Brennan, Paul, Brewer, Daniel S., Brinkman, Arie B., Bristow, Robert G., Broaddus, Russell R., Brock, Jane E., Brock, Malcolm, Broeks, Annegien, Brooks, Angela N., Brooks, Denise, Brors, Benedikt, Brunak, Søren, Bruxner, Timothy J. C., Bruzos, Alicia L., Buchanan, Alex, Buchhalter, Ivo, Buchholz, Christiane, Bullman, Susan, Burke, Hazel, Burkhardt, Birgit, Burns, Kathleen H., Busanovich, John, Bustamante, Carlos D., Butler, Adam P., Butte, Atul J., Byrne, Niall J., Børresen-Dale, Anne-Lise, Caesar-Johnson, Samantha J., Cafferkey, Andy, Cahill, Declan, Calabrese, Claudia, Caldas, Carlos, Calvo, Fabien, Camacho, Niedzica, Campo, Elias, Cantù, Cinzia, Cao, Shaolong, Carey, Thomas E., Carlevaro-Fita, Joana, Carlsen, Rebecca, Cataldo, Ivana, Cazzola, Mario, Cebon, Jonathan, Cerfolio, Robert, Chadwick, Dianne E., Chakravarty, Dimple, Chalmers, Don, Chan, Calvin Wing Yiu, Chan, Kin, Chan-Seng-Yue, Michelle, Chandan, Vishal S., Chanock, Stephen J., Chantrill, Lorraine A., Chateigner, Aurélien, Chatterjee, Nilanjan, Chayama, Kazuaki, Chen, Hsiao-Wei, Chen, Jieming, Chen, Ken, Chen, Yiwen, Chen, Zhaohong, Cherniack, Andrew D., Chien, Jeremy, Chiew, Yoke-Eng, Chin, Suet-Feung, Cho, Juok, Cho, Sunghoon, Choi, Jung Kyoon, Choi, Wan, Chomienne, Christine, Chong, Zechen, Choo, Su Pin, Chou, Angela, Christ, Angelika N., Christie, Elizabeth L., Chuah, Eric, Cibulskis, Carrie, Cibulskis, Kristian, Cingarlini, Sara, Clapham, Peter, Claviez, Alexander, Cleary, Sean, Cloonan, Nicole, Cmero, Marek, Collins, Colin C., Connor, Ashton A., Cooper, Colin S., Cope, Leslie, Corbo, Vincenzo, Cordes, Matthew G., Cordner, Stephen M., Cortés-Ciriano, Isidro, Covington, Kyle, Cowin, Prue A., Craft, Brian, Craft, David, Creighton, Chad J., Cun, Yupeng, Curley, Erin, Cutcutache, Ioana, Czajka, Karolina, Czerniak, Bogdan, Dagg, Rebecca A., Danilova, Ludmila, Davi, Maria Vittoria, Davidson, Natalie R., Davies, Helen, Davis, Ian J., Davis-Dusenbery, Brandi N., Dawson, Kevin J., De La Vega, Francisco M., De Paoli-Iseppi, Ricardo, Defreitas, Timothy, Dei Tos, Angelo P., Delaneau, Olivier, Demchok, John A., Demeulemeester, Jonas, Demidov, German M., Demircioğlu, Deniz, Dennis, Nening M., Denroche, Robert E., Dentro, Stefan C., Desai, Nikita, Deshwar, Amit G., Desmedt, Christine, Deu-Pons, Jordi, Dhalla, Noreen, Dhani, Neesha C., Dhingra, Priyanka, Dhir, Rajiv, DiBiase, Anthony, Diamanti, Klev, Ding, Li, Ding, Shuai, Dinh, Huy Q., Dirix, Luc, Doddapaneni, HarshaVardhan, Donmez, Nilgun, Dow, Michelle T., Drapkin, Ronny, Drechsel, Oliver, Drews, Ruben M., Serge, Serge, Dudderidge, Tim, Dueso-Barroso, Ana, Dunford, Andrew J., Dunn, Michael, Dursi, Lewis Jonathan, Duthie, Fraser R., Dutton-Regester, Ken, Eagles, Jenna, Easton, Douglas F., Edmonds, Stuart, Edwards, Paul A., Edwards, Sandra E., Eeles, Rosalind A., Ehinger, Anna, Eils, Juergen, Eils, Roland, El-Naggar, Adel, Eldridge, Matthew, Ellrott, Kyle, Erkek, Serap, Escaramis, Georgia, Espiritu, Shadrielle M. G., Estivill, Xavier, Etemadmoghadam, Dariush, Eyfjord, Jorunn E., Fan, Daiming, Fan, Yu, Farcas, Claudiu, Fassan, Matteo, Fatima, Aquila, Favero, Francesco, Fayzullaev, Nodirjon, Felau, Ina, Fereday, Sian, Ferguson, Martin L., Ferretti, Vincent, Feuerbach, Lars, Field, Matthew A., Fink, J. Lynn, Finocchiaro, Gaetano, Fisher, Cyril, Fittall, Matthew W., Fitzgerald, Anna, Fitzgerald, Rebecca C., Flanagan, Adrienne M., Fleshner, Neil E., Flicek, Paul, Foekens, John A., Fong, Kwun M., Fonseca, Nuno A., Foster, Christopher S., Fox, Natalie S., Fraser, Michael, Frazer, Scott, Frenkel-Morgenstern, Milana, Friedman, William, Frigola, Joan, Fronick, Catrina C., Fujimoto, Akihiro, Fujita, Masashi, Fukayama, Masashi, Fulton, Lucinda A., Fulton, Robert S., Furuta, Mayuko, Futreal, P. Andrew, Füllgrabe, Anja, Gabriel, Stacey B., Gallinger, Steven, Gambacorti-Passerini, Carlo, Gao, Jianjiong, Gao, Shengjie, Garred, Øystein, Garrison, Erik, Garsed, Dale W., Gehlenborg, Nils, Gelpi, Josep L. L., George, Joshy, Gerhard, Daniela S., Gerhauser, Clarissa, Gershenwald, Jeffrey E., Gerstein, Mark, Gerstung, Moritz, Ghori, Mohammed, Ghossein, Ronald, Giama, Nasra H., Gibbs, Richard A., Gill, Anthony J., Gill, Pelvender, Giri, Dilip D., Glodzik, Dominik, Gnanapragasam, Vincent J., Goebler, Maria Elisabeth, Goldman, Mary J., Gomez, Carmen, Gonzalez, Santiago, Gonzalez-Perez, Abel, Gordenin, Dmitry A., Gossage, James, Gotoh, Kunihito, Govindan, Ramaswamy, Grabau, Dorthe, Graham, Janet S., Grant, Robert C., Green, Anthony R., Green, Eric, Greger, Liliana, Grehan, Nicola, Grimaldi, Sonia, Grossman, Robert L., Grundhoff, Adam, Gundem, Gunes, Guo, Qianyun, Gupta, Manaswi, Gupta, Shailja, Gut, Ivo G., Gut, Marta, Göke, Jonathan, Ha, Gavin, Haake, Andrea, Haan, David, Haas, Siegfried, Haase, Kerstin, Haber, James E., Habermann, Nina, Hach, Faraz, Hama, Natsuko, Hamdy, Freddie C., Hamilton, Anne, Hamilton, Mark P., Han, Leng, Hanna, George B., Hansmann, Martin, Haradhvala, Nicholas J., Harismendy, Olivier, Harliwong, Ivon, Harmanci, Arif O., Harrington, Eoghan, Hasegawa, Takanori, Haussler, David, Hawkins, Steve, Hayami, Shinya, Hayashi, Shuto, Hayes, D. Neil, Hayes, Stephen J., Hayward, Nicholas K., Hazell, Steven, He, Yao, Heath, Allison P., Heath, Simon C., Hedley, David, Hegde, Apurva M., Heiman, David I., Heinold, Michael C., Heins, Zachary, Heisler, Lawrence E., Hellstrom-Lindberg, Eva, Helmy, Mohamed, Heo, Seong Gu, Hepperla, Austin J., Heredia-Genestar, José María, Herrmann, Carl, Hersey, Peter, Hess, Julian M., Hilmarsdottir, Holmfridur, Hinton, Jonathan, Hirano, Satoshi, Hiraoka, Nobuyoshi, Hobolth, Asger, Hodzic, Ermin, Hoell, Jessica I., Hoffmann, Steve, Hofmann, Oliver, Holbrook, Andrea, Holik, Aliaksei Z., Hollingsworth, Michael A., Holmes, Oliver, Holt, Robert A., Hong, Chen, Hong, Eun Pyo, Hong, Jongwhi H., Hooijer, Gerrit K., Hornshøj, Henrik, Hosoda, Fumie, Hou, Yong, Hovestadt, Volker, Howat, William, Hoyle, Alan P., Hruban, Ralph H., Hu, Jianhong, Hu, Taobo, Hua, Xing, Huang, Kuan-Lin, Huang, Mei, Huang, Mi Ni, Huang, Vincent, Huang, Yi, Huber, Wolfgang, Hudson, Thomas J., Hummel, Michael, Hung, Jillian A., Huntsman, David, Hupp, Ted R., Huse, Jason, Huska, Matthew R., Hutter, Barbara, Hutter, Carolyn M., Hübschmann, Daniel, Iacobuzio-Donahue, Christine A., Imbusch, Charles David, Imielinski, Marcin, Imoto, Seiya, Isaacs, William B., Isaev, Keren, Ishikawa, Shumpei, Iskar, Murat, Islam, S. M. Ashiqul, Ittmann, Michael, Ivkovic, Sinisa, Izarzugaza, Jose M. G., Jacquemier, Jocelyne, Jakrot, Valerie, Jamieson, Nigel B., Jang, Gun Ho, Jang, Se Jin, Jayaseelan, Joy C., Jayasinghe, Reyka, Jefferys, Stuart R., Jegalian, Karine, Jennings, Jennifer L., Jeon, Seung-Hyup, Jerman, Lara, Ji, Yuan, Johansson, Peter A., Johns, Amber L., Johns, Jeremy, Johnson, Rory, Johnson, Todd A., Jolly, Clemency, Joly, Yann, Jonasson, Jon G., Jones, Corbin D., Jones, David R., Jones, David T. W., Jones, Nic, Jones, Steven J. M., Jonkers, Jos, Ju, Young Seok, Juhl, Hartmut, Jung, Jongsun, Juul, Malene, Juul, Randi Istrup, Juul, Sissel, Jäger, Natalie, Kabbe, Rolf, Kahles, Andre, Kahraman, Abdullah, Kakavand, Hojabr, Kalimuthu, Sangeetha, Von Kalle, Christof, Kang, Koo Jeong, Karaszi, Katalin, Karlan, Beth, Karsch, Dennis, Kasaian, Katayoon, Kassahn, Karin S., Katai, Hitoshi, Katoh, Hiroto, Kawakami, Yoshiiku, Kay, Jonathan D., Kazakoff, Stephen H., Kazanov, Marat D., Keays, Maria, Kebebew, Electron, Kefford, Richard F., Kellis, Manolis, Kench, James G., Kennedy, Catherine J., Kerssemakers, Jules N. A., Khoo, David, Khoo, Vincent, Khuntikeo, Narong, Khurana, Ekta, Kilpinen, Helena, Kim, Hark Kyun, Kim, Hyung-Lae, Kim, Hyung-Yong, Kim, Hyunghwan, Kim, Jaegil, Kim, Jihoon, Kim, Jong K., Kim, Youngwook, King, Tari A., Klapper, Wolfram, Kleinheinz, Kortine, Klimczak, Leszek J., Knappskog, Stian, Kneba, Michael, Knoppers, Bartha M., Koh, Youngil, Komorowski, Jan, Komura, Daisuke, Komura, Mitsuhiro, Kong, Gu, Kool, Marcel, Korbel, Jan O., Korchina, Viktoriya, Korshunov, Andrey, Koscher, Michael, Koster, Roelof, Kote-Jarai, Zsofia, Koures, Antonios, Kovacevic, Milena, Kremeyer, Barbara, Kretzmer, Helene, Kreuz, Markus, Krishnamurthy, Savitri, Kube, Dieter, Kumar, Kiran, Kumar, Pardeep, Kumar, Sushant, Kumar, Yogesh, Kundra, Ritika, Küppers, Ralf, Lagergren, Jesper, Lai, Phillip H., Laird, Peter W., Lakhani, Sunil R., Lalansingh, Christopher M., Lalonde, Emilie, Lamaze, Fabien C., Lambert, Adam, Lander, Eric, Landgraf, Pablo, Landoni, Luca, Langerød, Anita, Lanzós, Andrés, Larsimont, Denis, Larsson, Erik, Lathrop, Mark, Lau, Loretta M. S., Lawerenz, Chris, Lawlor, Rita T., Lawrence, Michael S., Le, Xuan, Lee, Darlene, Lee, Donghoon, Lee, Eunjung Alice, Lee, Hee Jin, Lee, Jake June-Koo, Lee, Jeong-Yeon, Lee, Juhee, Lee, Ming Ta Michael, Lee-Six, Henry, Lehmann, Kjong-Van, Lehrach, Hans, Lenze, Dido, Leonard, Conrad R., Leongamornlert, Daniel A., Leshchiner, Ignaty, Letourneau, Louis, Letunic, Ivica, Levine, Douglas A., Lewis, Lora, Ley, Tim, Li, Chang, Li, Haiyan Irene, Li, Jun, Li, Lin, Li, Shantao, Li, Siliang, Li, Xiaobo, Li, Xiaotong, Li, Xinyue, Li, Yilong, Liang, Han, Liang, Sheng-Ben, Lichter, Peter, Lin, Pei, Lin, Ziao, Linehan, W. M., Lingjærde, Ole Christian, Liu, Dongbing, Liu, Eric Minwei, Liu, Fei-Fei, Liu, Fenglin, Liu, Jia, Liu, Xingmin, Livingstone, Julie, Livitz, Dimitri, Livni, Naomi, Lochovsky, Lucas, Loeffler, Markus, Long, Georgina V., Lopez-Guillermo, Armando, Lou, Shaoke, Lovat, Laurence B., Lu, Yiling, Lu, Yong-Jie, Lu, Youyong, Luchini, Claudio, Lungu, Ilinca, Luo, Xuemei, Luxton, Hayley J., Lynch, Andy G., Lype, Lisa, López, Cristina, López-Otín, Carlos, Ma, Eric Z., Ma, Yussanne, MacGrogan, Gaetan, MacRae, Shona, Macintyre, Geoff, Madsen, Tobias, Maejima, Kazuhiro, Mafficini, Andrea, Maglinte, Dennis T., Maitra, Arindam, Majumder, Partha P., Malcovati, Luca, Malikic, Salem, Malleo, Giuseppe, Mann, Graham J., Mantovani-Löffler, Luisa, Marchal, Kathleen, Marchegiani, Giovanni, Mardis, Elaine R., Margolin, Adam A., Marin, Maximillian G., Markowetz, Florian, Markowski, Julia, Marks, Jeffrey, Marques-Bonet, Tomas, Marra, Marco A., Marsden, Luke, Martens, John W. M., Martin-Subero, Jose I., Martincorena, Iñigo, Martinez-Fundichely, Alexander, Maruvka, Yosef E., Mashl, R. Jay, Massie, Charlie E., Matthew, Thomas J., Matthews, Lucy, Mayer, Erik, Mayes, Simon, Mayo, Michael, Mbabaali, Faridah, McCune, Karen, McDermott, Ultan, McGillivray, Patrick D., McLellan, Michael D., McPherson, John D., McPherson, John R., McPherson, Treasa A., Meier, Samuel R., Meng, Alice, Meng, Shaowu, Menzies, Andrew, Merrett, Neil D., Merson, Sue, Meyerson, Matthew, Meyerson, William, Mieczkowski, Piotr A., Mihaiescu, George L., Mijalkovic, Sanja, Mijalkovic-Lazic, Ana Mijalkovic, Mikkelsen, Tom, Milella, Michele, Mileshkin, Linda, Miller, Christopher A., Miller, David K., Miller, Jessica K., Mills, Gordon B., Milovanovic, Ana, Minner, Sarah, Miotto, Marco, Arnau, Gisela Mir, Mirabello, Lisa, Mitchell, Chris, Mitchell, Thomas J., Miyano, Satoru, Miyoshi, Naoki, Mizuno, Shinichi, Molnár-Gábor, Fruzsina, Moore, Malcolm J., Moore, Richard A., Morganella, Sandro, Morris, Quaid D., Morrison, Carl, Mose, Lisle E., Moser, Catherine D., Muiños, Ferran, Mularoni, Loris, Mungall, Andrew J., Mungall, Karen, Musgrove, Elizabeth A., Mustonen, Ville, Mutch, David, Muyas, Francesc, Muzny, Donna M., Muñoz, Alfonso, Myers, Jerome, Myklebost, Ola, Möller, Peter, Nagae, Genta, Nagrial, Adnan M., Nakagama, Hitoshi, Nakagawa, Hidewaki, Nakamura, Hiromi, Nakamura, Toru, Nakano, Kaoru, Nandi, Tannistha, Nangalia, Jyoti, Nastic, Mia, Navarro, Arcadi, Navarro, Fabio C. P., Neal, David E., Nettekoven, Gerd, Newell, Felicity, Newhouse, Steven J., Newton, Yulia, Ng, Alvin Wei Tian, Ng, Anthony, Nicholson, Jonathan, Nicol, David, Nie, Yongzhan, Nielsen, Morten Muhlig, Noble, Michael S., Nones, Katia, Northcott, Paul A., Notta, Faiyaz, O’Connor, Brian D., O’Donnell, Peter, O’Donovan, Maria, O’Meara, Sarah, O’Neill, Brian Patrick, O’Neill, J. Robert, Ocana, David, Ochoa, Angelica, Oesper, Layla, Ogden, Christopher, Ohdan, Hideki, Ohi, Kazuhiro, Ohno-Machado, Lucila, Oien, Karin A., Ojesina, Akinyemi I., Ojima, Hidenori, Okusaka, Takuji, Ong, Chovon Kiat, Ossowski, Stephan, Ott, German, Ouellette, B. F. Francis, Paczkowska, Marta, Paiella, Salvatore, Pairojkul, Chawalit, Pajic, Marina, Pan-Hammarström, Qiang, Papaemmanuil, Elli, Papatheodorou, Irene, Paramasivam, Nagarajan, Park, Ji Wan, Park, Joong-Won, Park, Keunchil, Park, Kiejung, Park, Peter J., Parker, Joel S., Parsons, Simon L., Pass, Harvey, Pasternack, Danielle, Pastore, Alessandro, Patch, Ann-Marie, Pauporté, Iris, Pea, Antonio, Pearson, John V., Pedamallu, Chandra Sekhar, Pedersen, Jakob Skou, Pederzoli, Paolo, Peifer, Martin, Pennell, Nathan A., Perou, Charles M., Petersen, Gloria M., Peto, Myron, Petrelli, Nicholas, Petryszak, Robert, Pfister, Stefan M., Phillips, Mark, Pich, Oriol, Pickett, Hilda A., Pihl, Todd D., Pillay, Nischalan, Pinder, Sarah, Pinese, Mark, Pinho, Andreia V., Pitkänen, Esa, Pivot, Xavier, Piñeiro-Yáñez, Elena, Planko, Laura, Plass, Christoph, Pons, Tirso, Popescu, Irinel, Potapova, Olga, Prasad, Aparna, Preston, Shaun R., Prinz, Manuel, Pritchard, Antonia L., Provenzano, Elena, Puente, Xose S., Puig, Sonia, Puiggròs, Montserrat, Pulido-Tamayo, Sergio, Pupo, Gulietta M., Purdie, Colin A., Quinn, Michael C., Rabionet, Raquel, Rader, Janet S., Radlwimmer, Bernhard, Radovic, Petar, Raeder, Benjamin, Raine, Keiran M., Ramakrishna, Manasa, Ramakrishnan, Kamna, Ramalingam, Suresh, Raphael, Benjamin J., Rathmell, W. Kimryn, Rausch, Tobias, Reifenberger, Guido, Reimand, Jüri, Reis-Filho, Jorge, Reuter, Victor, Reyes-Salazar, Iker, Reyna, Matthew A., Reynolds, Sheila M., Riazalhosseini, Yasser, Richardson, Andrea L., Richter, Julia, Ringel, Matthew, Ringnér, Markus, Rino, Yasushi, Rippe, Karsten, Roach, Jeffrey, Roberts, Lewis R., Roberts, Nicola D., Roberts, Steven A., Robertson, A. Gordon, Robertson, Alan J., Rodriguez, Javier Bartolomé, Rodriguez-Martin, Bernardo, Rodríguez-González, F. Germán, Roehrl, Michael H. A., Rohde, Marius, Rokutan, Hirofumi, Romieu, Gilles, Rooman, Ilse, Roques, Tom, Rosebrock, Daniel, Rosenberg, Mara, Rosenstiel, Philip C., Rosenwald, Andreas, Rowe, Edward W., Royo, Romina, Rozen, Steven G., Rubanova, Yulia, Rubio-Perez, Carlota, Rudneva, Vasilisa A., Rusev, Borislav C., Ruzzenente, Andrea, Rätsch, Gunnar, Sabarinathan, Radhakrishnan, Sabelnykova, Veronica Y., Sadeghi, Sara, Sahinalp, S. 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Houston, Thorne, Heather, Thorne, Leigh B., Thorogood, Adrian, Tiao, Grace, Tijanic, Nebojsa, Timms, Lee E., Tirabosco, Roberto, Tojo, Marta, Tommasi, Stefania, Toon, Christopher W., Toprak, Umut H., Torrents, David, Tortora, Giampaolo, Tost, Jörg, Totoki, Yasushi, Townend, David, Traficante, Nadia, Treilleux, Isabelle, Trotta, Jean-Rémi, Trümper, Lorenz H. P., Tsao, Ming, Tsunoda, Tatsuhiko, Tubio, Jose M. C., Tucker, Olga, Turkington, Richard, Turner, Daniel J., Tutt, Andrew, Ueno, Masaki, Ueno, Naoto T., Umbricht, Christopher, Umer, Husen M., Underwood, Timothy J., Urban, Lara, Urushidate, Tomoko, Ushiku, Tetsuo, Uusküla-Reimand, Liis, Valencia, Alfonso, Van Den Berg, David J., Van Laere, Steven, Van Loo, Peter, Van Meir, Erwin G., Van Den Eynden, Gert G., Van Der Kwast, Theodorus, Vasudev, Naveen, Vazquez, Miguel, Vedururu, Ravikiran, Veluvolu, Umadevi, Vembu, Shankar, Verbeke, Lieven P. 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M., Van De Vijver, Marc J., Veer, L. Van’t, and Von Mering, Christian more...
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692/4028/67/69 ,ComputingMilieux_THECOMPUTINGPROFESSION ,45 ,631/67/68 ,692/4028/67/395 ,38/23 ,631/114/2785 ,article ,ComputingMilieux_LEGALASPECTSOFCOMPUTING ,119 ,10. No inequality ,GeneralLiterature_MISCELLANEOUS ,3. Good health - Abstract
Funder: Canadian Network for Research and Innovation in Machining Technology, Natural Sciences and Engineering Research Council of Canada (NSERC Canadian Network for Research and Innovation in Machining Technology); doi: https://doi.org/10.13039/501100002790, Funder: Genome Canada (Génome Canada); doi: https://doi.org/10.13039/100008762, Funder: Canada Foundation for Innovation (Fondation canadienne pour l'innovation); doi: https://doi.org/10.13039/501100000196, Funder: Terry Fox Research Institute (Institut de Recherche Terry Fox); doi: https://doi.org/10.13039/501100004376, Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research. more...
192. Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
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Meyerson, William U., Dursi, Lewis Jonathan, Wang, Liang-Bo, Dong, Guanlan, Liang, Wen-Wei, Weerasinghe, Amila, Li, Yize, Kelso, Sean, Wendl, Michael C., Simpson, Jared T., Akbani, Rehan, Anur, Pavana, Bailey, Matthew H., Buchanan, Alex, Chiotti, Kami, Covington, Kyle, Creason, Allison, Ding, Li, Ellrott, Kyle, Fan, Yu, Foltz, Steven, Getz, Gad, Hale, Walker, Haussler, David, Hess, Julian M., Hutter, Carolyn M., Kandoth, Cyriac, Kasaian, Katayoon, Kasapi, Melpomeni, Larson, Dave, Leshchiner, Ignaty, Letaw, John, Ma, Singer, McLellan, Michael D., Men, Yifei, Mills, Gordon B., Niu, Beifang, Peto, Myron, Radenbaugh, Amie, Reynolds, Sheila M., Saksena, Gordon, Sofia, Heidi, Stewart, Chip, Struck, Adam J., Stuart, Joshua M., Wang, Wenyi, Weinstein, John N., Wheeler, David A., Wong, Christopher K., Xi, Liu, Ye, Kai, Bieg, Matthias, Boutros, Paul C., Buchhalter, Ivo, Butler, Adam P., Chen, Ken, Chong, Zechen, Drechsel, Oliver, Jonathan Dursi, Lewis, Eils, Roland, Espiritu, Shadrielle M. G., Fulton, Robert S., Gao, Shengjie, Gelpi, Josep L. L., Gerstein, Mark B., Gonzalez, Santiago, Gut, Ivo G., Hach, Faraz, Heinold, Michael C., Hinton, Jonathan, Hu, Taobo, Huang, Vincent, Huang, Yi, Hutter, Barbara, Jones, David R., Jung, Jongsun, Jäger, Natalie, Kim, Hyung-Lae, Kleinheinz, Kortine, Kumar, Sushant, Kumar, Yogesh, Lalansingh, Christopher M., Letunic, Ivica, Livitz, Dimitri, Ma, Eric Z., Maruvka, Yosef E., Mashl, R. Jay, Menzies, Andrew, Milovanovic, Ana, Nielsen, Morten Muhlig, Ossowski, Stephan, Paramasivam, Nagarajan, Pedersen, Jakob Skou, Perry, Marc D., Puiggròs, Montserrat, Raine, Keiran M., Rheinbay, Esther, Royo, Romina, Sahinalp, S. Cenk, Sarrafi, Iman, Schlesner, Matthias, Stebbings, Lucy, Stobbe, Miranda D., Teague, Jon W., Tiao, Grace, Torrents, David, Wala, Jeremiah A., Wang, Jiayin, Waszak, Sebastian M., Weischenfeldt, Joachim, Werner, Johannes, Wu, Zhenggang, Xue, Hong, Yakneen, Sergei, Yamaguchi, Takafumi N., Yellapantula, Venkata D., Yung, Christina K., Zhang, Junjun, Aaltonen, Lauri A., Abascal, Federico, Abeshouse, Adam, Aburatani, Hiroyuki, Adams, David J., Agrawal, Nishant, Ahn, Keun Soo, Ahn, Sung-Min, Aikata, Hiroshi, Akdemir, Kadir C., Al-Ahmadie, Hikmat, Al-Sedairy, Sultan T., Al-Shahrour, Fatima, Alawi, Malik, Albert, Monique, Aldape, Kenneth, Alexandrov, Ludmil B., Ally, Adrian, Alsop, Kathryn, Alvarez, Eva G., Amary, Fernanda, Amin, Samirkumar B., Aminou, Brice, Ammerpohl, Ole, Anderson, Matthew J., Ang, Yeng, Antonello, Davide, Aparicio, Samuel, Appelbaum, Elizabeth L., Arai, Yasuhito, Aretz, Axel, Arihiro, Koji, Ariizumi, Shun-Ichi, Armenia, Joshua, Arnould, Laurent, Asa, Sylvia, Assenov, Yassen, Atwal, Gurnit, Aukema, Sietse, Auman, J. Todd, Aure, Miriam R., Awadalla, Philip, Aymerich, Marta, Bader, Gary D., Baez-Ortega, Adrian, Bailey, Peter J., Balasundaram, Miruna, Balu, Saianand, Bandopadhayay, Pratiti, Banks, Rosamonde E., Barbi, Stefano, Barbour, Andrew P., Barenboim, Jonathan, Barnholtz-Sloan, Jill, Barr, Hugh, Barrera, Elisabet, Bartlett, John, Bartolome, Javier, Bassi, Claudio, Bathe, Oliver F., Baumhoer, Daniel, Bavi, Prashant, Baylin, Stephen B., Bazant, Wojciech, Beardsmore, Duncan, Beck, Timothy A., Behjati, Sam, Behren, Andreas, Bell, Cindy, Beltran, Sergi, Benz, Christopher, Berchuck, Andrew, Bergmann, Anke K., Bergstrom, Erik N., Berman, Benjamin P., Berney, Daniel M., Bernhart, Stephan H., Beroukhim, Rameen, Berrios, Mario, Bersani, Samantha, Bertl, Johanna, Betancourt, Miguel, Bhandari, Vinayak, Bhosle, Shriram G., Biankin, Andrew V., Bigner, Darell, Binder, Hans, Birney, Ewan, Birrer, Michael, Biswas, Nidhan K., Bjerkehagen, Bodil, Bodenheimer, Tom, Boice, Lori, Bonizzato, Giada, De Bono, Johann S., Boot, Arnoud, Bootwalla, Moiz S., Borg, Ake, Borkhardt, Arndt, Boroevich, Keith A., Borozan, Ivan, Borst, Christoph, Bosenberg, Marcus, Bosio, Mattia, Boultwood, Jacqueline, Bourque, Guillaume, Bova, G. Steven, Bowen, David T., Bowlby, Reanne, Bowtell, David D. L., Boyault, Sandrine, Boyce, Rich, Boyd, Jeffrey, Brazma, Alvis, Brennan, Paul, Brewer, Daniel S., Brinkman, Arie B., Bristow, Robert G., Broaddus, Russell R., Brock, Jane E., Brock, Malcolm, Broeks, Annegien, Brooks, Angela N., Brooks, Denise, Brors, Benedikt, Brunak, Søren, Bruxner, Timothy J. 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Andrew, Füllgrabe, Anja, Gabriel, Stacey B., Gallinger, Steven, Gambacorti-Passerini, Carlo, Gao, Jianjiong, Garraway, Levi, Garred, Øystein, Garrison, Erik, Garsed, Dale W., Gehlenborg, Nils, George, Joshy, Gerhard, Daniela S., Gerhauser, Clarissa, Gershenwald, Jeffrey E., Gerstung, Moritz, Ghori, Mohammed, Ghossein, Ronald, Giama, Nasra H., Gibbs, Richard A., Gill, Anthony J., Gill, Pelvender, Giri, Dilip D., Glodzik, Dominik, Gnanapragasam, Vincent J., Goebler, Maria Elisabeth, Goldman, Mary J., Gomez, Carmen, Gonzalez-Perez, Abel, Gordenin, Dmitry A., Gossage, James, Gotoh, Kunihito, Govindan, Ramaswamy, Grabau, Dorthe, Graham, Janet S., Grant, Robert C., Green, Anthony R., Green, Eric, Greger, Liliana, Grehan, Nicola, Grimaldi, Sonia, Grimmond, Sean M., Grossman, Robert L., Grundhoff, Adam, Gundem, Gunes, Guo, Qianyun, Gupta, Manaswi, Gupta, Shailja, Gut, Marta, Göke, Jonathan, Ha, Gavin, Haake, Andrea, Haan, David, Haas, Siegfried, Haase, Kerstin, Haber, James E., Habermann, Nina, Haider, Syed, Hama, Natsuko, Hamdy, Freddie C., Hamilton, Anne, Hamilton, Mark P., Han, Leng, Hanna, George B., Hansmann, Martin, Haradhvala, Nicholas J., Harismendy, Olivier, Harliwong, Ivon, Harmanci, Arif O., Harrington, Eoghan, Hasegawa, Takanori, Hawkins, Steve, Hayami, Shinya, Hayashi, Shuto, Hayes, D. Neil, Hayes, Stephen J., Hayward, Nicholas K., Hazell, Steven, He, Yao, Heath, Allison P., Heath, Simon C., Hedley, David, Hegde, Apurva M., Heiman, David I., Heins, Zachary, Heisler, Lawrence E., Hellstrom-Lindberg, Eva, Helmy, Mohamed, Heo, Seong Gu, Hepperla, Austin J., Heredia-Genestar, José María, Herrmann, Carl, Hersey, Peter, Hilmarsdottir, Holmfridur, Hirano, Satoshi, Hiraoka, Nobuyoshi, Hoadley, Katherine A., Hobolth, Asger, Hodzic, Ermin, Hoell, Jessica I., Hoffmann, Steve, Hofmann, Oliver, Holbrook, Andrea, Holik, Aliaksei Z., Hollingsworth, Michael A., Holmes, Oliver, Holt, Robert A., Hong, Chen, Hong, Eun Pyo, Hong, Jongwhi H., Hooijer, Gerrit K., Hornshøj, Henrik, Hosoda, Fumie, Hou, Yong, Hovestadt, Volker, Howat, William, Hoyle, Alan P., Hruban, Ralph H., Hu, Jianhong, Hua, Xing, Huang, Kuan-Lin, Huang, Mei, Huang, Mi Ni, Huber, Wolfgang, Hudson, Thomas J., Hummel, Michael, Hung, Jillian A., Huntsman, David, Hupp, Ted R., Huse, Jason, Huska, Matthew R., Hübschmann, Daniel, Iacobuzio-Donahue, Christine A., Imbusch, Charles David, Imielinski, Marcin, Imoto, Seiya, Isaacs, William B., Isaev, Keren, Ishikawa, Shumpei, Iskar, Murat, Islam, S. M. Ashiqul, Ittmann, Michael, Ivkovic, Sinisa, Izarzugaza, Jose M. G., Jacquemier, Jocelyne, Jakrot, Valerie, Jamieson, Nigel B., Jang, Gun Ho, Jang, Se Jin, Jayaseelan, Joy C., Jayasinghe, Reyka, Jefferys, Stuart R., Jegalian, Karine, Jennings, Jennifer L., Jeon, Seung-Hyup, Jerman, Lara, Ji, Yuan, Jiao, Wei, Johansson, Peter A., Johns, Amber L., Johns, Jeremy, Johnson, Rory, Johnson, Todd A., Jolly, Clemency, Joly, Yann, Jonasson, Jon G., Jones, Corbin D., Jones, David T. W., Jones, Nic, Jones, Steven J. M., Jonkers, Jos, Ju, Young Seok, Juhl, Hartmut, Juul, Malene, Juul, Randi Istrup, Juul, Sissel, Kabbe, Rolf, Kahles, Andre, Kahraman, Abdullah, Kaiser, Vera B., Kakavand, Hojabr, Kalimuthu, Sangeetha, Von Kalle, Christof, Kang, Koo Jeong, Karaszi, Katalin, Karlan, Beth, Karlić, Rosa, Karsch, Dennis, Kassahn, Karin S., Katai, Hitoshi, Kato, Mamoru, Katoh, Hiroto, Kawakami, Yoshiiku, Kay, Jonathan D., Kazakoff, Stephen H., Kazanov, Marat D., Keays, Maria, Kebebew, Electron, Kefford, Richard F., Kellis, Manolis, Kench, James G., Kennedy, Catherine J., Kerssemakers, Jules N. A., Khoo, David, Khoo, Vincent, Khuntikeo, Narong, Khurana, Ekta, Kilpinen, Helena, Kim, Hark Kyun, Kim, Hyung-Yong, Kim, Hyunghwan, Kim, Jaegil, Kim, Jihoon, Kim, Jong K., Kim, Youngwook, King, Tari A., Klapper, Wolfram, Klimczak, Leszek J., Knappskog, Stian, Kneba, Michael, Knoppers, Bartha M., Koh, Youngil, Komorowski, Jan, Komura, Daisuke, Komura, Mitsuhiro, Kong, Gu, Kool, Marcel, Korbel, Jan O., Korchina, Viktoriya, Korshunov, Andrey, Koscher, Michael, Koster, Roelof, Kote-Jarai, Zsofia, Koures, Antonios, Kovacevic, Milena, Kremeyer, Barbara, Kretzmer, Helene, Kreuz, Markus, Krishnamurthy, Savitri, Kube, Dieter, Kumar, Kiran, Kumar, Pardeep, Kundra, Ritika, Kübler, Kirsten, Küppers, Ralf, Lagergren, Jesper, Lai, Phillip H., Laird, Peter W., Lakhani, Sunil R., Lalonde, Emilie, Lamaze, Fabien C., Lambert, Adam, Lander, Eric, Landgraf, Pablo, Landoni, Luca, Langerød, Anita, Lanzós, Andrés, Larsimont, Denis, Larsson, Erik, Lathrop, Mark, Lau, Loretta M. 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M., Lingjærde, Ole Christian, Liu, Dongbing, Liu, Eric Minwei, Liu, Fei-Fei, Liu, Fenglin, Liu, Jia, Liu, Xingmin, Livingstone, Julie, Livni, Naomi, Lochovsky, Lucas, Loeffler, Markus, Long, Georgina V., Lopez-Guillermo, Armando, Lou, Shaoke, Louis, David N., Lovat, Laurence B., Lu, Yiling, Lu, Yong-Jie, Lu, Youyong, Luchini, Claudio, Lungu, Ilinca, Luo, Xuemei, Luxton, Hayley J., Lynch, Andy G., Lype, Lisa, López, Cristina, López-Otín, Carlos, Ma, Yussanne, MacGrogan, Gaetan, MacRae, Shona, Macintyre, Geoff, Madsen, Tobias, Maejima, Kazuhiro, Mafficini, Andrea, Maglinte, Dennis T., Maitra, Arindam, Majumder, Partha P., Malcovati, Luca, Malikic, Salem, Malleo, Giuseppe, Mann, Graham J., Mantovani-Löffler, Luisa, Marchal, Kathleen, Marchegiani, Giovanni, Mardis, Elaine R., Margolin, Adam A., Marin, Maximillian G., Markowetz, Florian, Markowski, Julia, Marks, Jeffrey, Marques-Bonet, Tomas, Marra, Marco A., Marsden, Luke, Martens, John W. M., Martin, Sancha, Martin-Subero, Jose I., Martincorena, Iñigo, Martinez-Fundichely, Alexander, Massie, Charlie E., Matthew, Thomas J., Matthews, Lucy, Mayer, Erik, Mayes, Simon, Mayo, Michael, Mbabaali, Faridah, McCune, Karen, McDermott, Ultan, McGillivray, Patrick D., McPherson, John D., McPherson, John R., McPherson, Treasa A., Meier, Samuel R., Meng, Alice, Meng, Shaowu, Merrett, Neil D., Merson, Sue, Meyerson, Matthew, Mieczkowski, Piotr A., Mihaiescu, George L., Mijalkovic, Sanja, Mijalkovic-Lazic, Ana Mijalkovic, Mikkelsen, Tom, Milella, Michele, Mileshkin, Linda, Miller, Christopher A., Miller, David K., Miller, Jessica K., Minner, Sarah, Miotto, Marco, Arnau, Gisela Mir, Mirabello, Lisa, Mitchell, Chris, Mitchell, Thomas J., Miyano, Satoru, Miyoshi, Naoki, Mizuno, Shinichi, Molnár-Gábor, Fruzsina, Moore, Malcolm J., Moore, Richard A., Morganella, Sandro, Morris, Quaid D., Morrison, Carl, Mose, Lisle E., Moser, Catherine D., Muiños, Ferran, Mularoni, Loris, Mungall, Andrew J., Mungall, Karen, Musgrove, Elizabeth A., Mustonen, Ville, Mutch, David, Muyas, Francesc, Muzny, Donna M., Muñoz, Alfonso, Myers, Jerome, Myklebost, Ola, Möller, Peter, Nagae, Genta, Nagrial, Adnan M., Nahal-Bose, Hardeep K., Nakagama, Hitoshi, Nakagawa, Hidewaki, Nakamura, Hiromi, Nakamura, Toru, Nakano, Kaoru, Nandi, Tannistha, Nangalia, Jyoti, Nastic, Mia, Navarro, Arcadi, Navarro, Fabio C. P., Neal, David E., Nettekoven, Gerd, Newell, Felicity, Newhouse, Steven J., Newton, Yulia, Ng, Alvin Wei Tian, Ng, Anthony, Nicholson, Jonathan, Nicol, David, Nie, Yongzhan, Nielsen, G. Petur, Nik-Zainal, Serena, Noble, Michael S., Nones, Katia, Northcott, Paul A., Notta, Faiyaz, O’Connor, Brian D., O’Donnell, Peter, O’Donovan, Maria, O’Meara, Sarah, O’Neill, Brian Patrick, O’Neill, J. Robert, Ocana, David, Ochoa, Angelica, Oesper, Layla, Ogden, Christopher, Ohdan, Hideki, Ohi, Kazuhiro, Ohno-Machado, Lucila, Oien, Karin A., Ojesina, Akinyemi I., Ojima, Hidenori, Okusaka, Takuji, Omberg, Larsson, Ong, Choon Kiat, Ott, German, Ouellette, B. F. Francis, P’ng, Christine, Paczkowska, Marta, Paiella, Salvatore, Pairojkul, Chawalit, Pajic, Marina, Pan-Hammarström, Qiang, Papaemmanuil, Elli, Papatheodorou, Irene, Park, Ji Wan, Park, Joong-Won, Park, Keunchil, Park, Kiejung, Park, Peter J., Parker, Joel S., Parsons, Simon L., Pass, Harvey, Pasternack, Danielle, Pastore, Alessandro, Patch, Ann-Marie, Pauporté, Iris, Pea, Antonio, Pearson, John V., Pedamallu, Chandra Sekhar, Pederzoli, Paolo, Peifer, Martin, Pennell, Nathan A., Perou, Charles M., Petersen, Gloria M., Petrelli, Nicholas, Petryszak, Robert, Pfister, Stefan M., Phillips, Mark, Pich, Oriol, Pickett, Hilda A., Pihl, Todd D., Pillay, Nischalan, Pinder, Sarah, Pinese, Mark, Pinho, Andreia V., Pitkänen, Esa, Pivot, Xavier, Piñeiro-Yáñez, Elena, Planko, Laura, Plass, Christoph, Polak, Paz, Pons, Tirso, Popescu, Irinel, Potapova, Olga, Prasad, Aparna, Preston, Shaun R., Prinz, Manuel, Pritchard, Antonia L., Prokopec, Stephenie D., Provenzano, Elena, Puente, Xose S., Puig, Sonia, Pulido-Tamayo, Sergio, Pupo, Gulietta M., Purdie, Colin A., Quinn, Michael C., Rabionet, Raquel, Rader, Janet S., Radlwimmer, Bernhard, Radovic, Petar, Raeder, Benjamin, Ramakrishna, Manasa, Ramakrishnan, Kamna, Ramalingam, Suresh, Raphael, Benjamin J., Rathmell, W. Kimryn, Rausch, Tobias, Reifenberger, Guido, Reimand, Jüri, Reis-Filho, Jorge, Reuter, Victor, Reyes-Salazar, Iker, Reyna, Matthew A., Riazalhosseini, Yasser, Richardson, Andrea L., Richter, Julia, Ringel, Matthew, Ringnér, Markus, Rino, Yasushi, Rippe, Karsten, Roach, Jeffrey, Roberts, Lewis R., Roberts, Nicola D., Roberts, Steven A., Robertson, A. Gordon, Robertson, Alan J., Rodriguez, Javier Bartolomé, Rodriguez-Martin, Bernardo, Rodríguez-González, F. Germán, Roehrl, Michael H. 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M., Van De Vijver, Marc J., Van’t Veer, L., and Von Mering, Christian more...
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692/4028/67/69 ,706/648/697/129/2043 ,631/114/2399 ,article ,45/23 ,139 ,631/1647/2217/748 ,3. Good health - Abstract
Funder: NCI U24CA211006, The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts. more...
193. Sex differences in oncogenic mutational processes
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Prokopec, Stephenie D., Sun, Ren X., Yousif, Fouad, Schmitz, Nathaniel, Al-Shahrour, Fatima, Atwal, Gurnit, Bailey, Peter J., Biankin, Andrew V., Boutros, Paul C., Campbell, Peter J., Chang, David K., Cooke, Susanna L., Deshpande, Vikram, Faltas, Bishoy M., Faquin, William C., Garraway, Levi, Getz, Gad, Grimmond, Sean M., Haider, Syed, Hoadley, Katherine A., Jiao, Wei, Kaiser, Vera B., Karlić, Rosa, Kato, Mamoru, Kübler, Kirsten, Lazar, Alexander J., Li, Constance H., Louis, David N., Margolin, Adam, Martin, Sancha, Nahal-Bose, Hardeep K., Nielsen, G. Petur, Nik-Zainal, Serena, Omberg, Larsson, P’ng, Christine, Perry, Marc D., Polak, Paz, Rheinbay, Esther, Rubin, Mark A., Semple, Colin A., Sgroi, Dennis C., Shibata, Tatsuhiro, Siebert, Reiner, Smith, Jaclyn, Stein, Lincoln D., Stobbe, Miranda D., Thai, Kevin, Wright, Derek W., Wu, Chin-Lee, Yuan, Ke, Zhang, Junjun, Aaltonen, Lauri A., Abascal, Federico, Abeshouse, Adam, Aburatani, Hiroyuki, Adams, David J., Agrawal, Nishant, Ahn, Keun Soo, Ahn, Sung-Min, Aikata, Hiroshi, Akbani, Rehan, Akdemir, Kadir C., Al-Ahmadie, Hikmat, Al-Sedairy, Sultan T., Alawi, Malik, Albert, Monique, Aldape, Kenneth, Alexandrov, Ludmil B., Ally, Adrian, Alsop, Kathryn, Alvarez, Eva G., Amary, Fernanda, Amin, Samirkumar B., Aminou, Brice, Ammerpohl, Ole, Anderson, Matthew J., Ang, Yeng, Antonello, Davide, Anur, Pavana, Aparicio, Samuel, Appelbaum, Elizabeth L., Arai, Yasuhito, Aretz, Axel, Arihiro, Koji, Ariizumi, Shun-Ichi, Armenia, Joshua, Arnould, Laurent, Asa, Sylvia, Assenov, Yassen, Aukema, Sietse, Auman, J. Todd, Aure, Miriam R., Awadalla, Philip, Aymerich, Marta, Bader, Gary D., Baez-Ortega, Adrian, Bailey, Matthew H., Balasundaram, Miruna, Balu, Saianand, Bandopadhayay, Pratiti, Banks, Rosamonde E., Barbi, Stefano, Barbour, Andrew P., Barenboim, Jonathan, Barnholtz-Sloan, Jill, Barr, Hugh, Barrera, Elisabet, Bartlett, John, Bartolome, Javier, Bassi, Claudio, Bathe, Oliver F., Baumhoer, Daniel, Bavi, Prashant, Baylin, Stephen B., Bazant, Wojciech, Beardsmore, Duncan, Beck, Timothy A., Behjati, Sam, Behren, Andreas, Niu, Beifang, Bell, Cindy, Beltran, Sergi, Benz, Christopher, Berchuck, Andrew, Bergmann, Anke K., Bergstrom, Erik N., Berman, Benjamin P., Berney, Daniel M., Bernhart, Stephan H., Beroukhim, Rameen, Berrios, Mario, Bersani, Samantha, Bertl, Johanna, Betancourt, Miguel, Bhandari, Vinayak, Bhosle, Shriram G., Bieg, Matthias, Bigner, Darell, Binder, Hans, Birney, Ewan, Birrer, Michael, Biswas, Nidhan K., Bjerkehagen, Bodil, Bodenheimer, Tom, Boice, Lori, Bonizzato, Giada, De Bono, Johann S., Boot, Arnoud, Bootwalla, Moiz S., Borg, Ake, Borkhardt, Arndt, Boroevich, Keith A., Borozan, Ivan, Borst, Christoph, Bosenberg, Marcus, Bosio, Mattia, Boultwood, Jacqueline, Bourque, Guillaume, Bova, G. Steven, Bowen, David T., Bowlby, Reanne, Bowtell, David D. L., Boyault, Sandrine, Boyce, Rich, Boyd, Jeffrey, Brazma, Alvis, Brennan, Paul, Brewer, Daniel S., Brinkman, Arie B., Bristow, Robert G., Broaddus, Russell R., Brock, Jane E., Brock, Malcolm, Broeks, Annegien, Brooks, Angela N., Brooks, Denise, Brors, Benedikt, Brunak, Søren, Bruxner, Timothy J. C., Bruzos, Alicia L., Buchanan, Alex, Buchhalter, Ivo, Buchholz, Christiane, Bullman, Susan, Burke, Hazel, Burkhardt, Birgit, Burns, Kathleen H., Busanovich, John, Bustamante, Carlos D., Butler, Adam P., Butte, Atul J., Byrne, Niall J., Børresen-Dale, Anne-Lise, Caesar-Johnson, Samantha J., Cafferkey, Andy, Cahill, Declan, Calabrese, Claudia, Caldas, Carlos, Calvo, Fabien, Camacho, Niedzica, Campo, Elias, Cantù, Cinzia, Cao, Shaolong, Carey, Thomas E., Carlevaro-Fita, Joana, Carlsen, Rebecca, Cataldo, Ivana, Cazzola, Mario, Cebon, Jonathan, Cerfolio, Robert, Chadwick, Dianne E., Chakravarty, Dimple, Chalmers, Don, Chan, Calvin Wing Yiu, Chan, Kin, Chan-Seng-Yue, Michelle, Chandan, Vishal S., Chanock, Stephen J., Chantrill, Lorraine A., Chateigner, Aurélien, Chatterjee, Nilanjan, Chayama, Kazuaki, Chen, Hsiao-Wei, Chen, Jieming, Chen, Ken, Chen, Yiwen, Chen, Zhaohong, Cherniack, Andrew D., Chien, Jeremy, Chiew, Yoke-Eng, Chin, Suet-Feung, Cho, Juok, Cho, Sunghoon, Choi, Jung Kyoon, Choi, Wan, Chomienne, Christine, Chong, Zechen, Choo, Su Pin, Chou, Angela, Christ, Angelika N., Christie, Elizabeth L., Chuah, Eric, Cibulskis, Carrie, Cibulskis, Kristian, Cingarlini, Sara, Clapham, Peter, Claviez, Alexander, Cleary, Sean, Cloonan, Nicole, Cmero, Marek, Collins, Colin C., Connor, Ashton A., Cooper, Colin S., Cope, Leslie, Corbo, Vincenzo, Cordes, Matthew G., Cordner, Stephen M., Cortés-Ciriano, Isidro, Covington, Kyle, Cowin, Prue A., Craft, Brian, Craft, David, Creighton, Chad J., Cun, Yupeng, Curley, Erin, Cutcutache, Ioana, Czajka, Karolina, Czerniak, Bogdan, Dagg, Rebecca A., Danilova, Ludmila, Davi, Maria Vittoria, Davidson, Natalie R., Davies, Helen, Davis, Ian J., Davis-Dusenbery, Brandi N., Dawson, Kevin J., De La Vega, Francisco M., De Paoli-Iseppi, Ricardo, Defreitas, Timothy, Dei Tos, Angelo P., Delaneau, Olivier, Demchok, John A., Demeulemeester, Jonas, Demidov, German M., Demircioğlu, Deniz, Dennis, Nening M., Denroche, Robert E., Dentro, Stefan C., Desai, Nikita, Deshwar, Amit G., Desmedt, Christine, Deu-Pons, Jordi, Dhalla, Noreen, Dhani, Neesha C., Dhingra, Priyanka, Dhir, Rajiv, DiBiase, Anthony, Diamanti, Klev, Ding, Li, Ding, Shuai, Dinh, Huy Q., Dirix, Luc, Doddapaneni, HarshaVardhan, Donmez, Nilgun, Dow, Michelle T., Drapkin, Ronny, Drechsel, Oliver, Drews, Ruben M., Serge, Serge, Dudderidge, Tim, Dueso-Barroso, Ana, Dunford, Andrew J., Dunn, Michael, Dursi, Lewis Jonathan, Duthie, Fraser R., Dutton-Regester, Ken, Eagles, Jenna, Easton, Douglas F., Edmonds, Stuart, Edwards, Paul A., Edwards, Sandra E., Eeles, Rosalind A., Ehinger, Anna, Eils, Juergen, Eils, Roland, El-Naggar, Adel, Eldridge, Matthew, Ellrott, Kyle, Erkek, Serap, Escaramis, Georgia, Espiritu, Shadrielle M. G., Estivill, Xavier, Etemadmoghadam, Dariush, Eyfjord, Jorunn E., Fan, Daiming, Fan, Yu, Farcas, Claudiu, Fassan, Matteo, Fatima, Aquila, Favero, Francesco, Fayzullaev, Nodirjon, Felau, Ina, Fereday, Sian, Ferguson, Martin L., Ferretti, Vincent, Feuerbach, Lars, Field, Matthew A., Fink, J. Lynn, Finocchiaro, Gaetano, Fisher, Cyril, Fittall, Matthew W., Fitzgerald, Anna, Fitzgerald, Rebecca C., Flanagan, Adrienne M., Fleshner, Neil E., Flicek, Paul, Foekens, John A., Fong, Kwun M., Fonseca, Nuno A., Foster, Christopher S., Fox, Natalie S., Fraser, Michael, Frazer, Scott, Frenkel-Morgenstern, Milana, Friedman, William, Frigola, Joan, Fronick, Catrina C., Fujimoto, Akihiro, Fujita, Masashi, Fukayama, Masashi, Fulton, Lucinda A., Fulton, Robert S., Furuta, Mayuko, Futreal, P. Andrew, Füllgrabe, Anja, Gabriel, Stacey B., Gallinger, Steven, Gambacorti-Passerini, Carlo, Gao, Jianjiong, Gao, Shengjie, Garred, Øystein, Garrison, Erik, Garsed, Dale W., Gehlenborg, Nils, Gelpi, Josep L. 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Jay, Massie, Charlie E., Matthew, Thomas J., Matthews, Lucy, Mayer, Erik, Mayes, Simon, Mayo, Michael, Mbabaali, Faridah, McCune, Karen, McDermott, Ultan, McGillivray, Patrick D., McLellan, Michael D., McPherson, John D., McPherson, John R., McPherson, Treasa A., Meier, Samuel R., Meng, Alice, Meng, Shaowu, Menzies, Andrew, Merrett, Neil D., Merson, Sue, Meyerson, Matthew, Meyerson, William, Mieczkowski, Piotr A., Mihaiescu, George L., Mijalkovic, Sanja, Mijalkovic-Lazic, Ana Mijalkovic, Mikkelsen, Tom, Milella, Michele, Mileshkin, Linda, Miller, Christopher A., Miller, David K., Miller, Jessica K., Mills, Gordon B., Milovanovic, Ana, Minner, Sarah, Miotto, Marco, Arnau, Gisela Mir, Mirabello, Lisa, Mitchell, Chris, Mitchell, Thomas J., Miyano, Satoru, Miyoshi, Naoki, Mizuno, Shinichi, Molnár-Gábor, Fruzsina, Moore, Malcolm J., Moore, Richard A., Morganella, Sandro, Morris, Quaid D., Morrison, Carl, Mose, Lisle E., Moser, Catherine D., Muiños, Ferran, Mularoni, Loris, Mungall, Andrew J., Mungall, Karen, Musgrove, Elizabeth A., Mustonen, Ville, Mutch, David, Muyas, Francesc, Muzny, Donna M., Muñoz, Alfonso, Myers, Jerome, Myklebost, Ola, Möller, Peter, Nagae, Genta, Nagrial, Adnan M., Nakagama, Hitoshi, Nakagawa, Hidewaki, Nakamura, Hiromi, Nakamura, Toru, Nakano, Kaoru, Nandi, Tannistha, Nangalia, Jyoti, Nastic, Mia, Navarro, Arcadi, Navarro, Fabio C. 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Kimryn, Rausch, Tobias, Reifenberger, Guido, Reimand, Jüri, Reis-Filho, Jorge, Reuter, Victor, Reyes-Salazar, Iker, Reyna, Matthew A., Reynolds, Sheila M., Riazalhosseini, Yasser, Richardson, Andrea L., Richter, Julia, Ringel, Matthew, Ringnér, Markus, Rino, Yasushi, Rippe, Karsten, Roach, Jeffrey, Roberts, Lewis R., Roberts, Nicola D., Roberts, Steven A., Robertson, A. Gordon, Robertson, Alan J., Rodriguez, Javier Bartolomé, Rodriguez-Martin, Bernardo, Rodríguez-González, F. Germán, Roehrl, Michael H. A., Rohde, Marius, Rokutan, Hirofumi, Romieu, Gilles, Rooman, Ilse, Roques, Tom, Rosebrock, Daniel, Rosenberg, Mara, Rosenstiel, Philip C., Rosenwald, Andreas, Rowe, Edward W., Royo, Romina, Rozen, Steven G., Rubanova, Yulia, Rubio-Perez, Carlota, Rudneva, Vasilisa A., Rusev, Borislav C., Ruzzenente, Andrea, Rätsch, Gunnar, Sabarinathan, Radhakrishnan, Sabelnykova, Veronica Y., Sadeghi, Sara, Sahinalp, S. 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M., Van De Vijver, Marc J., Veer, L. Van’t, and Von Mering, Christian more...
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692/4028/67/69 ,ComputingMilieux_THECOMPUTINGPROFESSION ,45 ,631/67/68 ,692/4028/67/395 ,38/23 ,631/114/2785 ,article ,ComputingMilieux_LEGALASPECTSOFCOMPUTING ,119 ,10. No inequality ,GeneralLiterature_MISCELLANEOUS ,3. Good health - Abstract
Funder: Canadian Network for Research and Innovation in Machining Technology, Natural Sciences and Engineering Research Council of Canada (NSERC Canadian Network for Research and Innovation in Machining Technology); doi: https://doi.org/10.13039/501100002790, Funder: Genome Canada (Génome Canada); doi: https://doi.org/10.13039/100008762, Funder: Canada Foundation for Innovation (Fondation canadienne pour l'innovation); doi: https://doi.org/10.13039/501100000196, Funder: Terry Fox Research Institute (Institut de Recherche Terry Fox); doi: https://doi.org/10.13039/501100004376, Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research. more...
194. Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
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Meyerson, William U., Dursi, Lewis Jonathan, Wang, Liang-Bo, Dong, Guanlan, Liang, Wen-Wei, Weerasinghe, Amila, Kelso, Sean, Wendl, Michael C., Simpson, Jared T., Akbani, Rehan, Anur, Pavana, Bailey, Matthew H., Buchanan, Alex, Chiotti, Kami, Covington, Kyle, Creason, Allison, Ding, Li, Ellrott, Kyle, Fan, Yu, Foltz, Steven, Getz, Gad, Hale, Walker, Haussler, David, Hess, Julian M., Hutter, Carolyn M., Kandoth, Cyriac, Kasaian, Katayoon, Kasapi, Melpomeni, Larson, Dave, Leshchiner, Ignaty, Letaw, John, Ma, Singer, McLellan, Michael D., Men, Yifei, Mills, Gordon B., Niu, Beifang, Peto, Myron, Radenbaugh, Amie, Reynolds, Sheila M., Saksena, Gordon, Sofia, Heidi, Stewart, Chip, Struck, Adam J., Stuart, Joshua M., Wang, Wenyi, Weinstein, John N., Wheeler, David A., Wong, Christopher K., Xi, Liu, Ye, Kai, Bieg, Matthias, Boutros, Paul C., Buchhalter, Ivo, Butler, Adam P., Chen, Ken, Chong, Zechen, Drechsel, Oliver, Jonathan Dursi, Lewis, Eils, Roland, Espiritu, Shadrielle M. G., Fulton, Robert S., Gao, Shengjie, Gelpi, Josep L. L., Gerstein, Mark B., Gonzalez, Santiago, Gut, Ivo G., Hach, Faraz, Heinold, Michael C., Hinton, Jonathan, Hu, Taobo, Huang, Vincent, Huang, Yi, Hutter, Barbara, Jones, David R., Jung, Jongsun, Jäger, Natalie, Kim, Hyung-Lae, Kleinheinz, Kortine, Kumar, Sushant, Kumar, Yogesh, Lalansingh, Christopher M., Letunic, Ivica, Livitz, Dimitri, Ma, Eric Z., Maruvka, Yosef E., Mashl, R. Jay, Menzies, Andrew, Milovanovic, Ana, Nielsen, Morten Muhlig, Ossowski, Stephan, Paramasivam, Nagarajan, Pedersen, Jakob Skou, Perry, Marc D., Puiggròs, Montserrat, Raine, Keiran M., Rheinbay, Esther, Royo, Romina, Sahinalp, S. Cenk, Sarrafi, Iman, Schlesner, Matthias, Stebbings, Lucy, Stobbe, Miranda D., Teague, Jon W., Tiao, Grace, Torrents, David, Wala, Jeremiah A., Wang, Jiayin, Waszak, Sebastian M., Weischenfeldt, Joachim, Werner, Johannes, Wu, Zhenggang, Xue, Hong, Yakneen, Sergei, Yamaguchi, Takafumi N., Yellapantula, Venkata D., Yung, Christina K., Zhang, Junjun, Aaltonen, Lauri A., Abascal, Federico, Abeshouse, Adam, Aburatani, Hiroyuki, Adams, David J., Agrawal, Nishant, Ahn, Keun Soo, Ahn, Sung-Min, Aikata, Hiroshi, Akdemir, Kadir C., Al-Ahmadie, Hikmat, Al-Sedairy, Sultan T., Al-Shahrour, Fatima, Alawi, Malik, Albert, Monique, Aldape, Kenneth, Alexandrov, Ludmil B., Ally, Adrian, Alsop, Kathryn, Alvarez, Eva G., Amary, Fernanda, Amin, Samirkumar B., Aminou, Brice, Ammerpohl, Ole, Anderson, Matthew J., Ang, Yeng, Antonello, Davide, Aparicio, Samuel, Appelbaum, Elizabeth L., Arai, Yasuhito, Aretz, Axel, Arihiro, Koji, Ariizumi, Shun-Ichi, Armenia, Joshua, Arnould, Laurent, Asa, Sylvia, Assenov, Yassen, Atwal, Gurnit, Aukema, Sietse, Auman, J. Todd, Aure, Miriam R., Awadalla, Philip, Aymerich, Marta, Bader, Gary D., Baez-Ortega, Adrian, Bailey, Peter J., Balasundaram, Miruna, Balu, Saianand, Bandopadhayay, Pratiti, Banks, Rosamonde E., Barbi, Stefano, Barbour, Andrew P., Barenboim, Jonathan, Barnholtz-Sloan, Jill, Barr, Hugh, Barrera, Elisabet, Bartlett, John, Bartolome, Javier, Bassi, Claudio, Bathe, Oliver F., Baumhoer, Daniel, Bavi, Prashant, Baylin, Stephen B., Bazant, Wojciech, Beardsmore, Duncan, Beck, Timothy A., Behjati, Sam, Behren, Andreas, Bell, Cindy, Beltran, Sergi, Benz, Christopher, Berchuck, Andrew, Bergmann, Anke K., Bergstrom, Erik N., Berman, Benjamin P., Berney, Daniel M., Bernhart, Stephan H., Beroukhim, Rameen, Berrios, Mario, Bersani, Samantha, Bertl, Johanna, Betancourt, Miguel, Bhandari, Vinayak, Bhosle, Shriram G., Biankin, Andrew V., Bigner, Darell, Binder, Hans, Birney, Ewan, Birrer, Michael, Biswas, Nidhan K., Bjerkehagen, Bodil, Bodenheimer, Tom, Boice, Lori, Bonizzato, Giada, De Bono, Johann S., Boot, Arnoud, Bootwalla, Moiz S., Borg, Ake, Borkhardt, Arndt, Boroevich, Keith A., Borozan, Ivan, Borst, Christoph, Bosenberg, Marcus, Bosio, Mattia, Boultwood, Jacqueline, Bourque, Guillaume, Bova, G. Steven, Bowen, David T., Bowlby, Reanne, Bowtell, David D. L., Boyault, Sandrine, Boyce, Rich, Boyd, Jeffrey, Brazma, Alvis, Brennan, Paul, Brewer, Daniel S., Brinkman, Arie B., Bristow, Robert G., Broaddus, Russell R., Brock, Jane E., Brock, Malcolm, Broeks, Annegien, Brooks, Angela N., Brooks, Denise, Brors, Benedikt, Brunak, Søren, Bruxner, Timothy J. C., Bruzos, Alicia L., Buchholz, Christiane, Bullman, Susan, Burke, Hazel, Burkhardt, Birgit, Burns, Kathleen H., Busanovich, John, Bustamante, Carlos D., Butte, Atul J., Byrne, Niall J., Børresen-Dale, Anne-Lise, Caesar-Johnson, Samantha J., Cafferkey, Andy, Cahill, Declan, Calabrese, Claudia, Caldas, Carlos, Calvo, Fabien, Camacho, Niedzica, Campbell, Peter J., Campo, Elias, Cantù, Cinzia, Cao, Shaolong, Carey, Thomas E., Carlevaro-Fita, Joana, Carlsen, Rebecca, Cataldo, Ivana, Cazzola, Mario, Cebon, Jonathan, Cerfolio, Robert, Chadwick, Dianne E., Chakravarty, Dimple, Chalmers, Don, Chan, Calvin Wing Yiu, Chan, Kin, Chan-Seng-Yue, Michelle, Chandan, Vishal S., Chang, David K., Chanock, Stephen J., Chantrill, Lorraine A., Chateigner, Aurélien, Chatterjee, Nilanjan, Chayama, Kazuaki, Chen, Hsiao-Wei, Chen, Jieming, Chen, Yiwen, Chen, Zhaohong, Cherniack, Andrew D., Chien, Jeremy, Chiew, Yoke-Eng, Chin, Suet-Feung, Cho, Juok, Cho, Sunghoon, Choi, Jung Kyoon, Choi, Wan, Chomienne, Christine, Choo, Su Pin, Chou, Angela, Christ, Angelika N., Christie, Elizabeth L., Chuah, Eric, Cibulskis, Carrie, Cibulskis, Kristian, Cingarlini, Sara, Clapham, Peter, Claviez, Alexander, Cleary, Sean, Cloonan, Nicole, Cmero, Marek, Collins, Colin C., Connor, Ashton A., Cooke, Susanna L., Cooper, Colin S., Cope, Leslie, Corbo, Vincenzo, Cordes, Matthew G., Cordner, Stephen M., Cortés-Ciriano, Isidro, Cowin, Prue A., Craft, Brian, Craft, David, Creighton, Chad J., Cun, Yupeng, Curley, Erin, Cutcutache, Ioana, Czajka, Karolina, Czerniak, Bogdan, Dagg, Rebecca A., Danilova, Ludmila, Davi, Maria Vittoria, Davidson, Natalie R., Davies, Helen, Davis, Ian J., Davis-Dusenbery, Brandi N., Dawson, Kevin J., De La Vega, Francisco M., De Paoli-Iseppi, Ricardo, Defreitas, Timothy, Dei Tos, Angelo P., Delaneau, Olivier, Demchok, John A., Demeulemeester, Jonas, Demidov, German M., Demircioğlu, Deniz, Dennis, Nening M., Denroche, Robert E., Dentro, Stefan C., Desai, Nikita, Deshpande, Vikram, Deshwar, Amit G., Desmedt, Christine, Deu-Pons, Jordi, Dhalla, Noreen, Dhani, Neesha C., Dhingra, Priyanka, Dhir, Rajiv, DiBiase, Anthony, Diamanti, Klev, Ding, Shuai, Dinh, Huy Q., Dirix, Luc, Doddapaneni, HarshaVardhan, Donmez, Nilgun, Dow, Michelle T., Drapkin, Ronny, Drews, Ruben M., Serge, Serge, Dudderidge, Tim, Dueso-Barroso, Ana, Dunford, Andrew J., Dunn, Michael, Duthie, Fraser R., Dutton-Regester, Ken, Eagles, Jenna, Easton, Douglas F., Edmonds, Stuart, Edwards, Paul A., Edwards, Sandra E., Eeles, Rosalind A., Ehinger, Anna, Eils, Juergen, El-Naggar, Adel, Eldridge, Matthew, Erkek, Serap, Escaramis, Georgia, Estivill, Xavier, Etemadmoghadam, Dariush, Eyfjord, Jorunn E., Faltas, Bishoy M., Fan, Daiming, Faquin, William C., Farcas, Claudiu, Fassan, Matteo, Fatima, Aquila, Favero, Francesco, Fayzullaev, Nodirjon, Felau, Ina, Fereday, Sian, Ferguson, Martin L., Ferretti, Vincent, Feuerbach, Lars, Field, Matthew A., Fink, J. Lynn, Finocchiaro, Gaetano, Fisher, Cyril, Fittall, Matthew W., Fitzgerald, Anna, Fitzgerald, Rebecca C., Flanagan, Adrienne M., Fleshner, Neil E., Flicek, Paul, Foekens, John A., Fong, Kwun M., Fonseca, Nuno A., Foster, Christopher S., Fox, Natalie S., Fraser, Michael, Frazer, Scott, Frenkel-Morgenstern, Milana, Friedman, William, Frigola, Joan, Fronick, Catrina C., Fujimoto, Akihiro, Fujita, Masashi, Fukayama, Masashi, Fulton, Lucinda A., Furuta, Mayuko, Futreal, P. Andrew, Füllgrabe, Anja, Gabriel, Stacey B., Gallinger, Steven, Gambacorti-Passerini, Carlo, Gao, Jianjiong, Garraway, Levi, Garred, Øystein, Garrison, Erik, Garsed, Dale W., Gehlenborg, Nils, George, Joshy, Gerhard, Daniela S., Gerhauser, Clarissa, Gershenwald, Jeffrey E., Gerstung, Moritz, Ghori, Mohammed, Ghossein, Ronald, Giama, Nasra H., Gibbs, Richard A., Gill, Anthony J., Gill, Pelvender, Giri, Dilip D., Glodzik, Dominik, Gnanapragasam, Vincent J., Goebler, Maria Elisabeth, Goldman, Mary J., Gomez, Carmen, Gonzalez-Perez, Abel, Gordenin, Dmitry A., Gossage, James, Gotoh, Kunihito, Govindan, Ramaswamy, Grabau, Dorthe, Graham, Janet S., Grant, Robert C., Green, Anthony R., Green, Eric, Greger, Liliana, Grehan, Nicola, Grimaldi, Sonia, Grimmond, Sean M., Grossman, Robert L., Grundhoff, Adam, Gundem, Gunes, Guo, Qianyun, Gupta, Manaswi, Gupta, Shailja, Gut, Marta, Göke, Jonathan, Ha, Gavin, Haake, Andrea, Haan, David, Haas, Siegfried, Haase, Kerstin, Haber, James E., Habermann, Nina, Haider, Syed, Hama, Natsuko, Hamdy, Freddie C., Hamilton, Anne, Hamilton, Mark P., Han, Leng, Hanna, George B., Hansmann, Martin, Haradhvala, Nicholas J., Harismendy, Olivier, Harliwong, Ivon, Harmanci, Arif O., Harrington, Eoghan, Hasegawa, Takanori, Hawkins, Steve, Hayami, Shinya, Hayashi, Shuto, Hayes, D. Neil, Hayes, Stephen J., Hayward, Nicholas K., Hazell, Steven, He, Yao, Heath, Allison P., Heath, Simon C., Hedley, David, Hegde, Apurva M., Heiman, David I., Heins, Zachary, Heisler, Lawrence E., Hellstrom-Lindberg, Eva, Helmy, Mohamed, Heo, Seong Gu, Hepperla, Austin J., Heredia-Genestar, José María, Herrmann, Carl, Hersey, Peter, Hilmarsdottir, Holmfridur, Hirano, Satoshi, Hiraoka, Nobuyoshi, Hoadley, Katherine A., Hobolth, Asger, Hodzic, Ermin, Hoell, Jessica I., Hoffmann, Steve, Hofmann, Oliver, Holbrook, Andrea, Holik, Aliaksei Z., Hollingsworth, Michael A., Holmes, Oliver, Holt, Robert A., Hong, Chen, Hong, Eun Pyo, Hong, Jongwhi H., Hooijer, Gerrit K., Hornshøj, Henrik, Hosoda, Fumie, Hou, Yong, Hovestadt, Volker, Howat, William, Hoyle, Alan P., Hruban, Ralph H., Hu, Jianhong, Hua, Xing, Huang, Kuan-Lin, Huang, Mei, Huang, Mi Ni, Huber, Wolfgang, Hudson, Thomas J., Hummel, Michael, Hung, Jillian A., Huntsman, David, Hupp, Ted R., Huse, Jason, Huska, Matthew R., Hübschmann, Daniel, Iacobuzio-Donahue, Christine A., Imbusch, Charles David, Imielinski, Marcin, Imoto, Seiya, Isaacs, William B., Isaev, Keren, Ishikawa, Shumpei, Iskar, Murat, Islam, S. M. Ashiqul, Ittmann, Michael, Ivkovic, Sinisa, Izarzugaza, Jose M. G., Jacquemier, Jocelyne, Jakrot, Valerie, Jamieson, Nigel B., Jang, Gun Ho, Jang, Se Jin, Jayaseelan, Joy C., Jayasinghe, Reyka, Jefferys, Stuart R., Jegalian, Karine, Jennings, Jennifer L., Jeon, Seung-Hyup, Jerman, Lara, Ji, Yuan, Jiao, Wei, Johansson, Peter A., Johns, Amber L., Johns, Jeremy, Johnson, Rory, Johnson, Todd A., Jolly, Clemency, Joly, Yann, Jonasson, Jon G., Jones, Corbin D., Jones, David T. W., Jones, Nic, Jones, Steven J. M., Jonkers, Jos, Ju, Young Seok, Juhl, Hartmut, Juul, Malene, Juul, Randi Istrup, Juul, Sissel, Kabbe, Rolf, Kahles, Andre, Kahraman, Abdullah, Kaiser, Vera B., Kakavand, Hojabr, Kalimuthu, Sangeetha, Von Kalle, Christof, Kang, Koo Jeong, Karaszi, Katalin, Karlan, Beth, Karlić, Rosa, Karsch, Dennis, Kassahn, Karin S., Katai, Hitoshi, Kato, Mamoru, Katoh, Hiroto, Kawakami, Yoshiiku, Kay, Jonathan D., Kazakoff, Stephen H., Kazanov, Marat D., Keays, Maria, Kebebew, Electron, Kefford, Richard F., Kellis, Manolis, Kench, James G., Kennedy, Catherine J., Kerssemakers, Jules N. A., Khoo, David, Khoo, Vincent, Khuntikeo, Narong, Khurana, Ekta, Kilpinen, Helena, Kim, Hark Kyun, Kim, Hyung-Yong, Kim, Hyunghwan, Kim, Jaegil, Kim, Jihoon, Kim, Jong K., Kim, Youngwook, King, Tari A., Klapper, Wolfram, Klimczak, Leszek J., Knappskog, Stian, Kneba, Michael, Knoppers, Bartha M., Koh, Youngil, Komorowski, Jan, Komura, Daisuke, Komura, Mitsuhiro, Kong, Gu, Kool, Marcel, Korbel, Jan O., Korchina, Viktoriya, Korshunov, Andrey, Koscher, Michael, Koster, Roelof, Kote-Jarai, Zsofia, Koures, Antonios, Kovacevic, Milena, Kremeyer, Barbara, Kretzmer, Helene, Kreuz, Markus, Krishnamurthy, Savitri, Kube, Dieter, Kumar, Kiran, Kumar, Pardeep, Kundra, Ritika, Kübler, Kirsten, Küppers, Ralf, Lagergren, Jesper, Lai, Phillip H., Laird, Peter W., Lakhani, Sunil R., Lalonde, Emilie, Lamaze, Fabien C., Lambert, Adam, Lander, Eric, Landgraf, Pablo, Landoni, Luca, Langerød, Anita, Lanzós, Andrés, Larsimont, Denis, Larsson, Erik, Lathrop, Mark, Lau, Loretta M. S., Lawerenz, Chris, Lawlor, Rita T., Lawrence, Michael S., Lazar, Alexander J., Le, Xuan, Lee, Darlene, Lee, Donghoon, Lee, Eunjung Alice, Lee, Hee Jin, Lee, Jake June-Koo, Lee, Jeong-Yeon, Lee, Juhee, Lee, Ming Ta Michael, Lee-Six, Henry, Lehmann, Kjong-Van, Lehrach, Hans, Lenze, Dido, Leonard, Conrad R., Leongamornlert, Daniel A., Letourneau, Louis, Levine, Douglas A., Lewis, Lora, Ley, Tim, Li, Chang, Li, Constance H., Li, Haiyan Irene, Li, Jun, Li, Lin, Li, Shantao, Li, Siliang, Li, Xiaobo, Li, Xiaotong, Li, Xinyue, Li, Yilong, Liang, Han, Liang, Sheng-Ben, Lichter, Peter, Lin, Pei, Lin, Ziao, Linehan, W. M., Lingjærde, Ole Christian, Liu, Dongbing, Liu, Eric Minwei, Liu, Fei-Fei, Liu, Fenglin, Liu, Jia, Liu, Xingmin, Livingstone, Julie, Livni, Naomi, Lochovsky, Lucas, Loeffler, Markus, Long, Georgina V., Lopez-Guillermo, Armando, Lou, Shaoke, Louis, David N., Lovat, Laurence B., Lu, Yiling, Lu, Yong-Jie, Lu, Youyong, Luchini, Claudio, Lungu, Ilinca, Luo, Xuemei, Luxton, Hayley J., Lynch, Andy G., Lype, Lisa, López, Cristina, López-Otín, Carlos, Ma, Yussanne, MacGrogan, Gaetan, MacRae, Shona, Macintyre, Geoff, Madsen, Tobias, Maejima, Kazuhiro, Mafficini, Andrea, Maglinte, Dennis T., Maitra, Arindam, Majumder, Partha P., Malcovati, Luca, Malikic, Salem, Malleo, Giuseppe, Mann, Graham J., Mantovani-Löffler, Luisa, Marchal, Kathleen, Marchegiani, Giovanni, Mardis, Elaine R., Margolin, Adam A., Marin, Maximillian G., Markowetz, Florian, Markowski, Julia, Marks, Jeffrey, Marques-Bonet, Tomas, Marra, Marco A., Marsden, Luke, Martens, John W. M., Martin, Sancha, Martin-Subero, Jose I., Martincorena, Iñigo, Martinez-Fundichely, Alexander, Massie, Charlie E., Matthew, Thomas J., Matthews, Lucy, Mayer, Erik, Mayes, Simon, Mayo, Michael, Mbabaali, Faridah, McCune, Karen, McDermott, Ultan, McGillivray, Patrick D., McPherson, John D., McPherson, John R., McPherson, Treasa A., Meier, Samuel R., Meng, Alice, Meng, Shaowu, Merrett, Neil D., Merson, Sue, Meyerson, Matthew, Mieczkowski, Piotr A., Mihaiescu, George L., Mijalkovic, Sanja, Mijalkovic-Lazic, Ana Mijalkovic, Mikkelsen, Tom, Milella, Michele, Mileshkin, Linda, Miller, Christopher A., Miller, David K., Miller, Jessica K., Minner, Sarah, Miotto, Marco, Arnau, Gisela Mir, Mirabello, Lisa, Mitchell, Chris, Mitchell, Thomas J., Miyano, Satoru, Miyoshi, Naoki, Mizuno, Shinichi, Molnár-Gábor, Fruzsina, Moore, Malcolm J., Moore, Richard A., Morganella, Sandro, Morris, Quaid D., Morrison, Carl, Mose, Lisle E., Moser, Catherine D., Muiños, Ferran, Mularoni, Loris, Mungall, Andrew J., Mungall, Karen, Musgrove, Elizabeth A., Mustonen, Ville, Mutch, David, Muyas, Francesc, Muzny, Donna M., Muñoz, Alfonso, Myers, Jerome, Myklebost, Ola, Möller, Peter, Nagae, Genta, Nagrial, Adnan M., Nahal-Bose, Hardeep K., Nakagama, Hitoshi, Nakagawa, Hidewaki, Nakamura, Hiromi, Nakamura, Toru, Nakano, Kaoru, Nandi, Tannistha, Nangalia, Jyoti, Nastic, Mia, Navarro, Arcadi, Navarro, Fabio C. P., Neal, David E., Nettekoven, Gerd, Newell, Felicity, Newhouse, Steven J., Newton, Yulia, Ng, Alvin Wei Tian, Ng, Anthony, Nicholson, Jonathan, Nicol, David, Nie, Yongzhan, Nielsen, G. Petur, Nik-Zainal, Serena, Noble, Michael S., Nones, Katia, Northcott, Paul A., Notta, Faiyaz, O’Connor, Brian D., O’Donnell, Peter, O’Donovan, Maria, O’Meara, Sarah, O’Neill, Brian Patrick, O’Neill, J. Robert, Ocana, David, Ochoa, Angelica, Oesper, Layla, Ogden, Christopher, Ohdan, Hideki, Ohi, Kazuhiro, Ohno-Machado, Lucila, Oien, Karin A., Ojesina, Akinyemi I., Ojima, Hidenori, Okusaka, Takuji, Omberg, Larsson, Ong, Choon Kiat, Ott, German, Ouellette, B. F. Francis, P’ng, Christine, Paczkowska, Marta, Paiella, Salvatore, Pairojkul, Chawalit, Pajic, Marina, Pan-Hammarström, Qiang, Papaemmanuil, Elli, Papatheodorou, Irene, Park, Ji Wan, Park, Joong-Won, Park, Keunchil, Park, Kiejung, Park, Peter J., Parker, Joel S., Parsons, Simon L., Pass, Harvey, Pasternack, Danielle, Pastore, Alessandro, Patch, Ann-Marie, Pauporté, Iris, Pea, Antonio, Pearson, John V., Pedamallu, Chandra Sekhar, Pederzoli, Paolo, Peifer, Martin, Pennell, Nathan A., Perou, Charles M., Petersen, Gloria M., Petrelli, Nicholas, Petryszak, Robert, Pfister, Stefan M., Phillips, Mark, Pich, Oriol, Pickett, Hilda A., Pihl, Todd D., Pillay, Nischalan, Pinder, Sarah, Pinese, Mark, Pinho, Andreia V., Pitkänen, Esa, Pivot, Xavier, Piñeiro-Yáñez, Elena, Planko, Laura, Plass, Christoph, Polak, Paz, Pons, Tirso, Popescu, Irinel, Potapova, Olga, Prasad, Aparna, Preston, Shaun R., Prinz, Manuel, Pritchard, Antonia L., Prokopec, Stephenie D., Provenzano, Elena, Puente, Xose S., Puig, Sonia, Pulido-Tamayo, Sergio, Pupo, Gulietta M., Purdie, Colin A., Quinn, Michael C., Rabionet, Raquel, Rader, Janet S., Radlwimmer, Bernhard, Radovic, Petar, Raeder, Benjamin, Ramakrishna, Manasa, Ramakrishnan, Kamna, Ramalingam, Suresh, Raphael, Benjamin J., Rathmell, W. Kimryn, Rausch, Tobias, Reifenberger, Guido, Reimand, Jüri, Reis-Filho, Jorge, Reuter, Victor, Reyes-Salazar, Iker, Reyna, Matthew A., Riazalhosseini, Yasser, Richardson, Andrea L., Richter, Julia, Ringel, Matthew, Ringnér, Markus, Rino, Yasushi, Rippe, Karsten, Roach, Jeffrey, Roberts, Lewis R., Roberts, Nicola D., Roberts, Steven A., Robertson, A. Gordon, Robertson, Alan J., Rodriguez, Javier Bartolomé, Rodriguez-Martin, Bernardo, Rodríguez-González, F. Germán, Roehrl, Michael H. A., Rohde, Marius, Rokutan, Hirofumi, Romieu, Gilles, Rooman, Ilse, Roques, Tom, Rosebrock, Daniel, Rosenberg, Mara, Rosenstiel, Philip C., Rosenwald, Andreas, Rowe, Edward W., Rozen, Steven G., Rubanova, Yulia, Rubin, Mark A., Rubio-Perez, Carlota, Rudneva, Vasilisa A., Rusev, Borislav C., Ruzzenente, Andrea, Rätsch, Gunnar, Sabarinathan, Radhakrishnan, Sabelnykova, Veronica Y., Sadeghi, Sara, Saini, Natalie, Saito-Adachi, Mihoko, Salcedo, Adriana, Salgado, Roberto, Salichos, Leonidas, Sallari, Richard, Saller, Charles, Salvia, Roberto, Sam, Michelle, Samra, Jaswinder S., Sanchez-Vega, Francisco, Sander, Chris, Sanders, Grant, Sarin, Rajiv, Sasaki-Oku, Aya, Sauer, Torill, Sauter, Guido, Saw, Robyn P. M., Scardoni, Maria, Scarlett, Christopher J., Scarpa, Aldo, Scelo, Ghislaine, Schadendorf, Dirk, Schein, Jacqueline E., Schilhabel, Markus B., Schlomm, Thorsten, Schmidt, Heather K., Schramm, Sarah-Jane, Schreiber, Stefan, Schultz, Nikolaus, Schumacher, Steven E., Schwarz, Roland F., Scolyer, Richard A., Scott, David, Scully, Ralph, Seethala, Raja, Segre, Ayellet V., Selander, Iris, Semple, Colin A., Senbabaoglu, Yasin, Sengupta, Subhajit, Sereni, Elisabetta, Serra, Stefano, Sgroi, Dennis C., Shackleton, Mark, Shah, Nimish C., Shahabi, Sagedeh, Shang, Catherine A., Shang, Ping, Shapira, Ofer, Shelton, Troy, Shen, Ciyue, Shen, Hui, Shepherd, Rebecca, Shi, Ruian, Shi, Yan, Shiah, Yu-Jia, Shibata, Tatsuhiro, Shih, Juliann, Shimizu, Eigo, Shimizu, Kiyo, Shin, Seung Jun, Shiraishi, Yuichi, Shmaya, Tal, Shmulevich, Ilya, Shorser, Solomon I., Short, Charles, Shrestha, Raunak, Shringarpure, Suyash S., Shriver, Craig, Shuai, Shimin, Sidiropoulos, Nikos, Siebert, Reiner, Sieuwerts, Anieta M., Sieverling, Lina, Signoretti, Sabina, Sikora, Katarzyna O., Simbolo, Michele, Simon, Ronald, Simons, Janae V., Simpson, Peter T., Singer, Samuel, Sinnott-Armstrong, Nasa, Sipahimalani, Payal, Skelly, Tara J., Smid, Marcel, Smith, Jaclyn, Smith-McCune, Karen, Socci, Nicholas D., Sofia, Heidi J., Soloway, Matthew G., Song, Lei, Sood, Anil K., Sothi, Sharmila, Sotiriou, Christos, Soulette, Cameron M., Span, Paul N., Spellman, Paul T., Sperandio, Nicola, Spillane, Andrew J., Spiro, Oliver, Spring, Jonathan, Staaf, Johan, Stadler, Peter F., Staib, Peter, Stark, Stefan G., Stefánsson, Ólafur Andri, Stegle, Oliver, Stein, Lincoln D., Stenhouse, Alasdair, Stilgenbauer, Stephan, Stratton, Michael R., Stretch, Jonathan R., Stunnenberg, Henk G., Su, Hong, Su, Xiaoping, Sun, Ren X., Sungalee, Stephanie, Susak, Hana, Suzuki, Akihiro, Sweep, Fred, Szczepanowski, Monika, Sültmann, Holger, Yugawa, Takashi, Tam, Angela, Tamborero, David, Tan, Benita Kiat Tee, Tan, Donghui, Tan, Patrick, Tanaka, Hiroko, Taniguchi, Hirokazu, Tanskanen, Tomas J., Tarabichi, Maxime, Tarnuzzer, Roy, Tarpey, Patrick, Taschuk, Morgan L., Tatsuno, Kenji, Tavaré, Simon, Taylor, Darrin F., Taylor-Weiner, Amaro, Teh, Bin Tean, Tembe, Varsha, Temes, Javier, Thai, Kevin, Thayer, Sarah P., Thiessen, Nina, Thomas, Gilles, Thomas, Sarah, Thompson, Alan, Thompson, Alastair M., Thompson, John F., Thompson, R. Houston, Thorne, Heather, Thorne, Leigh B., Thorogood, Adrian, Tijanic, Nebojsa, Timms, Lee E., Tirabosco, Roberto, Tojo, Marta, Tommasi, Stefania, Toon, Christopher W., Toprak, Umut H., Tortora, Giampaolo, Tost, Jörg, Totoki, Yasushi, Townend, David, Traficante, Nadia, Treilleux, Isabelle, Trotta, Jean-Rémi, Trümper, Lorenz H. P., Tsao, Ming, Tsunoda, Tatsuhiko, Tubio, Jose M. C., Tucker, Olga, Turkington, Richard, Turner, Daniel J., Tutt, Andrew, Ueno, Masaki, Ueno, Naoto T., Umbricht, Christopher, Umer, Husen M., Underwood, Timothy J., Urban, Lara, Urushidate, Tomoko, Ushiku, Tetsuo, Uusküla-Reimand, Liis, Valencia, Alfonso, Van Den Berg, David J., Van Laere, Steven, Van Loo, Peter, Van Meir, Erwin G., Van Den Eynden, Gert G., Van Der Kwast, Theodorus, Vasudev, Naveen, Vazquez, Miguel, Vedururu, Ravikiran, Veluvolu, Umadevi, Vembu, Shankar, Verbeke, Lieven P. C., Vermeulen, Peter, Verrill, Clare, Viari, Alain, Vicente, David, Vicentini, Caterina, Raghavan, K. 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M., Van De Vijver, Marc J., Van’t Veer, L., and Von Mering, Christian more...
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692/4028/67/69 ,706/648/697/129/2043 ,631/114/2399 ,article ,45/23 ,139 ,631/1647/2217/748 ,3. Good health - Abstract
Funder: NCI U24CA211006, The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts. more...
195. Pan-cancer analysis of whole genomes
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Campbell, Peter J., Getz, Gad, Korbel, Jan O., Stuart, Joshua M., Jennings, Jennifer L., Stein, Lincoln D., Perry, Marc D., Nahal-Bose, Hardeep K., Ouellette, B. F. Francis, Li, Constance H., Rheinbay, Esther, Nielsen, G. Petur, Sgroi, Dennis C., Wu, Chin-Lee, Faquin, William C., Deshpande, Vikram, Boutros, Paul C., Lazar, Alexander J., Hoadley, Katherine A., Louis, David N., Dursi, L. 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Jay, Ye, Kai, DiBiase, Anthony, Huang, Kuan-Lin, Letunic, Ivica, McLellan, Michael D., Newhouse, Steven J., Shmaya, Tal, Kumar, Sushant, Wedge, David C., Wright, Mark H., Yellapantula, Venkata D., Gerstein, Mark, Khurana, Ekta, Marques-Bonet, Tomas, Navarro, Arcadi, Bustamante, Carlos D., Siebert, Reiner, Nakagawa, Hidewaki, Easton, Douglas F., Ossowski, Stephan, Tubio, Jose M. 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Cenk, Sarrafi, Iman, Stewart, Chip, Stobbe, Miranda D., Wala, Jeremiah A., Wang, Jiayin, Wendl, Michael, Werner, Johannes, Wu, Zhenggang, Xue, Hong, Yamaguchi, Takafumi N., Yellapantula, Venkata, Davis-Dusenbery, Brandi N., Grossman, Robert L., Kim, Youngwook, Heinold, Michael C., Hinton, Jonathan, Jones, David R., Menzies, Andrew, Stebbings, Lucy, Hess, Julian M., Rosenberg, Mara, Dunford, Andrew J., Gupta, Manaswi, Imielinski, Marcin, Meyerson, Matthew, Beroukhim, Rameen, Reimand, Jüri, Dhingra, Priyanka, Favero, Francesco, Dentro, Stefan, Wintersinger, Jeff, Rudneva, Vasilisa, Park, Ji Wan, Hong, Eun Pyo, Heo, Seong Gu, Kahles, André, Lehmann, Kjong-Van, Soulette, Cameron M., Shiraishi, Yuichi, Liu, Fenglin, He, Yao, Demircioğlu, Deniz, Davidson, Natalie R., Greger, Liliana, Li, Siliang, Liu, Dongbing, Stark, Stefan G., Zhang, Fan, Amin, Samirkumar B., Bailey, Peter, Chateigner, Aurélien, Frenkel-Morgenstern, Milana, Hou, Yong, Huska, Matthew R., Kilpinen, Helena, Lamaze, Fabien C., Li, Chang, Li, Xiaobo, Li, Xinyue, Liu, Xingmin, Marin, Maximillian G., Markowski, Julia, Nandi, Tannistha, Ojesina, Akinyemi I., Pan-Hammarström, Qiang, Park, Peter J., Pedamallu, Chandra Sekhar, Su, Hong, Tan, Patrick, Teh, Bin Tean, Wang, Jian, Xiong, Heng, Ye, Chen, Yung, Christina, Zhang, Xiuqing, Zheng, Liangtao, Zhu, Shida, Awadalla, Philip, Creighton, Chad J., Wu, Kui, Yang, Huanming, Göke, Jonathan, Zhang, Zemin, Brooks, Angela N., Fittall, Matthew W, Martincorena, Iñigo, Rubio-Perez, Carlota, Juul, Malene, Schumacher, Steven, Shapira, Ofer, Tamborero, David, Mularoni, Loris, Hornshøj, Henrik, Deu-Pons, Jordi, Muiños, Ferran, Bertl, Johanna, Guo, Qianyun, Bazant, Wojciech, Barrera, Elisabet, Al-Sedairy, Sultan T., Aretz, Axel, Bell, Cindy, Betancourt, Miguel, Buchholz, Christiane, Calvo, Fabien, Chomienne, Christine, Dunn, Michael, Edmonds, Stuart, Green, Eric, Gupta, Shailja, Hutter, Carolyn M., Jegalian, Karine, Jones, Nic, Lu, Youyong, Nakagama, Hitoshi, Nettekoven, Gerd, Planko, Laura, Scott, David, Shibata, Tatsuhiro, Shimizu, Kiyo, Stratton, Michael R., Yugawa, Takashi, Tortora, Giampaolo, VijayRaghavan, K., Zenklusen, Jean C., Knoppers, Bartha M., Aminou, Brice, Bartolome, Javier, Boroevich, Keith A., Boyce, Rich, Buchanan, Alex, Byrne, Niall J., Chen, Zhaohong, Cho, Sunghoon, Choi, Wan, Clapham, Peter, Dow, Michelle T., Dursi, Lewis Jonathan, Eils, Juergen, Farcas, Claudiu, Fayzullaev, Nodirjon, Flicek, Paul, Heath, Allison P., Hofmann, Oliver, Hong, Jongwhi H., Hudson, Thomas J., Hübschmann, Daniel, Ivkovic, Sinisa, Jeon, Seung-Hyup, Jiao, Wei, Kabbe, Rolf, Kahles, Andre, Kerssemakers, Jules N. A., Kim, Hyunghwan, Kim, Jihoon, Koscher, Michael, Koures, Antonios, Kovacevic, Milena, Lawerenz, Chris, Liu, Jia, Mijalkovic, Sanja, Mijalkovic-Lazic, Ana Mijalkovic, Miyano, Satoru, Nastic, Mia, Nicholson, Jonathan, Ocana, David, Ohi, Kazuhiro, Ohno-Machado, Lucila, Pihl, Todd D., Prinz, Manuel, Radovic, Petar, Short, Charles, Sofia, Heidi J., Spring, Jonathan, Struck, Adam J., Tijanic, Nebojsa, Vicente, David, Wang, Zhining, Williams, Ashley, Woo, Youngchoon, Wright, Adam J., Yang, Liming, Hamilton, Mark P., Johnson, Todd A., Kahraman, Abdullah, Kellis, Manolis, Polak, Paz, Sallari, Richard, Sinnott-Armstrong, Nasa, Von Mering, Christian, Beltran, Sergi, Gerhard, Daniela S., Gut, Marta, Trotta, Jean-Rémi, Whalley, Justin P., Niu, Beifang, Espiritu, Shadrielle M. G., Gao, Shengjie, Huang, Yi, Lalansingh, Christopher M., Teague, Jon W., Wendl, Michael C., Abascal, Federico, Bader, Gary D., Bandopadhayay, Pratiti, Barenboim, Jonathan, Brunak, Søren, Carlevaro-Fita, Joana, Chakravarty, Dimple, Chan, Calvin Wing Yiu, Choi, Jung Kyoon, Diamanti, Klev, Fink, J. Lynn, Frigola, Joan, Gambacorti-Passerini, Carlo, Garsed, Dale W., Haradhvala, Nicholas J., Harmanci, Arif O., Helmy, Mohamed, Herrmann, Carl, Hobolth, Asger, Hodzic, Ermin, Hong, Chen, Isaev, Keren, Izarzugaza, Jose M. G., Johnson, Rory, Juul, Randi Istrup, Kim, Jaegil, Kim, Jong K., Komorowski, Jan, Lanzós, Andrés, Larsson, Erik, Lee, Donghoon, Li, Shantao, Li, Xiaotong, Lin, Ziao, Liu, Eric Minwei, Lochovsky, Lucas, Lou, Shaoke, Madsen, Tobias, Marchal, Kathleen, Martinez-Fundichely, Alexander, McGillivray, Patrick D., Meyerson, William, Paczkowska, Marta, Park, Keunchil, Park, Kiejung, Pons, Tirso, Pulido-Tamayo, Sergio, Reyes-Salazar, Iker, Reyna, Matthew A., Rubin, Mark A., Salichos, Leonidas, Sander, Chris, Schumacher, Steven E., Shackleton, Mark, Shen, Ciyue, Shrestha, Raunak, Shuai, Shimin, Tsunoda, Tatsuhiko, Umer, Husen M., Uusküla-Reimand, Liis, Verbeke, Lieven P. C., Wadelius, Claes, Wadi, Lina, Warrell, Jonathan, Wu, Guanming, Yu, Jun, Zhang, Jing, Zhang, Xuanping, Zhang, Yan, Zhao, Zhongming, Zou, Lihua, Lawrence, Michael S., Raphael, Benjamin J., Bailey, Peter J., Craft, David, Goldman, Mary J., Aburatani, Hiroyuki, Binder, Hans, Dinh, Huy Q., Heath, Simon C., Hoffmann, Steve, Imbusch, Charles David, Kretzmer, Helene, Laird, Peter W., Martin-Subero, Jose I., Nagae, Genta, Shen, Hui, Wang, Qi, Weichenhan, Dieter, Zhou, Wanding, Berman, Benjamin P., Brors, Benedikt, Plass, Christoph, Akdemir, Kadir C., Bowtell, David D. L., Burns, Kathleen H., Busanovich, John, Chan, Kin, Dueso-Barroso, Ana, Edwards, Paul A., Etemadmoghadam, Dariush, Haber, James E., Jones, David T. W., Ju, Young Seok, Kazanov, Marat D., Koh, Youngil, Kumar, Kiran, Lee, Eunjung Alice, Lee, Jake June-Koo, Lynch, Andy G., Macintyre, Geoff, Markowetz, Florian, Navarro, Fabio C. P., Pearson, John V., Rippe, Karsten, Scully, Ralph, Villasante, Izar, Waddell, Nicola, Yang, Lixing, Yao, Xiaotong, Yoon, Sung-Soo, Zhang, Cheng-Zhong, Bergstrom, Erik N., Boot, Arnoud, Covington, Kyle, Fujimoto, Akihiro, Huang, Mi Ni, Islam, S. M. Ashiqul, McPherson, John R., Morganella, Sandro, Mustonen, Ville, Ng, Alvin Wei Tian, Prokopec, Stephenie D., Vázquez-García, Ignacio, Wu, Yang, Yousif, Fouad, Yu, Willie, Rozen, Steven G., Rudneva, Vasilisa A., Shringarpure, Suyash S., Turner, Daniel J., Xia, Tian, Atwal, Gurnit, Chang, David K., Cooke, Susanna L., Faltas, Bishoy M., Haider, Syed, Kaiser, Vera B., Karlić, Rosa, Kato, Mamoru, Kübler, Kirsten, Margolin, Adam, Martin, Sancha, Nik-Zainal, Serena, P’ng, Christine, Semple, Colin A., Smith, Jaclyn, Sun, Ren X., Thai, Kevin, Wright, Derek W., Yuan, Ke, Biankin, Andrew V., Garraway, Levi, Grimmond, Sean M., Adams, David J., Anur, Pavana, Cao, Shaolong, Christie, Elizabeth L., Cmero, Marek, Cun, Yupeng, Dawson, Kevin J., Dentro, Stefan C., Deshwar, Amit G., Donmez, Nilgun, Drews, Ruben M., Gerstung, Moritz, Ha, Gavin, Haase, Kerstin, Jerman, Lara, Ji, Yuan, Jolly, Clemency, Lee, Juhee, Lee-Six, Henry, Malikic, Salem, Mitchell, Thomas J., Morris, Quaid D., Oesper, Layla, Peifer, Martin, Peto, Myron, Rosebrock, Daniel, Rubanova, Yulia, Salcedo, Adriana, Sengupta, Subhajit, Shi, Ruian, Shin, Seung Jun, Spiro, Oliver, Vembu, Shankar, Wintersinger, Jeffrey A., Yang, Tsun-Po, Yu, Kaixian, Zhu, Hongtu, Spellman, Paul T., Weinstein, John N., Chen, Yiwen, Fujita, Masashi, Han, Leng, Hasegawa, Takanori, Komura, Mitsuhiro, Li, Jun, Mizuno, Shinichi, Shimizu, Eigo, Wang, Yumeng, Xu, Yanxun, Yamaguchi, Rui, Yang, Fan, Yang, Yang, Yoon, Christopher J., Yuan, Yuan, Liang, Han, Alawi, Malik, Borozan, Ivan, Brewer, Daniel S., Cooper, Colin S., Desai, Nikita, Grundhoff, Adam, Iskar, Murat, Su, Xiaoping, Zapatka, Marc, Lichter, Peter, Alsop, Kathryn, Bruxner, Timothy J. C., Christ, Angelika N., Cordner, Stephen M., Cowin, Prue A., Drapkin, Ronny, Fereday, Sian, George, Joshy, Hamilton, Anne, Holmes, Oliver, Hung, Jillian A., Kassahn, Karin S., Kazakoff, Stephen H., Kennedy, Catherine J., Leonard, Conrad R., Mileshkin, Linda, Miller, David K., Arnau, Gisela Mir, Mitchell, Chris, Newell, Felicity, Nones, Katia, Patch, Ann-Marie, Quinn, Michael C., Taylor, Darrin F., Thorne, Heather, Traficante, Nadia, Vedururu, Ravikiran, Waddell, Nick M., Waring, Paul M., Wood, Scott, Xu, Qinying, DeFazio, Anna, Anderson, Matthew J., Antonello, Davide, Barbour, Andrew P., Bassi, Claudio, Bersani, Samantha, Cataldo, Ivana, Chantrill, Lorraine A., Chiew, Yoke-Eng, Chou, Angela, Cingarlini, Sara, Cloonan, Nicole, Corbo, Vincenzo, Davi, Maria Vittoria, Duthie, Fraser R., Gill, Anthony J., Graham, Janet S., Harliwong, Ivon, Jamieson, Nigel B., Johns, Amber L., Kench, James G., Landoni, Luca, Lawlor, Rita T., Mafficini, Andrea, Merrett, Neil D., Miotto, Marco, Musgrove, Elizabeth A., Nagrial, Adnan M., Oien, Karin A., Pajic, Marina, Pinese, Mark, Robertson, Alan J., Rooman, Ilse, Rusev, Borislav C., Samra, Jaswinder S., Scardoni, Maria, Scarlett, Christopher J., Scarpa, Aldo, Sereni, Elisabetta, Sikora, Katarzyna O., Simbolo, Michele, Taschuk, Morgan L., Toon, Christopher W., Vicentini, Caterina, Wu, Jianmin, Zeps, Nikolajs, Behren, Andreas, Burke, Hazel, Cebon, Jonathan, Dagg, Rebecca A., De Paoli-Iseppi, Ricardo, Dutton-Regester, Ken, Field, Matthew A., Fitzgerald, Anna, Hersey, Peter, Jakrot, Valerie, Johansson, Peter A., Kakavand, Hojabr, Kefford, Richard F., Lau, Loretta M. 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R., Bhosle, Shriram G., Birney, Ewan, Borg, Ake, Boyault, Sandrine, Brinkman, Arie B., Brock, Jane E., Broeks, Annegien, Børresen-Dale, Anne-Lise, Caldas, Carlos, Chin, Suet-Feung, Davies, Helen, Desmedt, Christine, Dirix, Luc, Dronov, Serge, Ehinger, Anna, Eyfjord, Jorunn E., Fatima, Aquila, Foekens, John A., Futreal, P. Andrew, Garred, Øystein, Giri, Dilip D., Glodzik, Dominik, Grabau, Dorthe, Hilmarsdottir, Holmfridur, Hooijer, Gerrit K., Jacquemier, Jocelyne, Jang, Se Jin, Jonasson, Jon G., Jonkers, Jos, Kim, Hyung-Yong, King, Tari A., Knappskog, Stian, Kong, Gu, Krishnamurthy, Savitri, Lakhani, Sunil R., Langerød, Anita, Larsimont, Denis, Lee, Hee Jin, Lee, Jeong-Yeon, Lee, Ming Ta Michael, Lingjærde, Ole Christian, MacGrogan, Gaetan, Martens, John W. M., O’Meara, Sarah, Pauporté, Iris, Pinder, Sarah, Pivot, Xavier, Provenzano, Elena, Purdie, Colin A., Ramakrishna, Manasa, Ramakrishnan, Kamna, Reis-Filho, Jorge, Richardson, Andrea L., Ringnér, Markus, Rodriguez, Javier Bartolomé, Rodríguez-González, F. Germán, Romieu, Gilles, Salgado, Roberto, Sauer, Torill, Shepherd, Rebecca, Sieuwerts, Anieta M., Simpson, Peter T., Smid, Marcel, Sotiriou, Christos, Span, Paul N., Stefánsson, Ólafur Andri, Stenhouse, Alasdair, Stunnenberg, Henk G., Sweep, Fred, Tan, Benita Kiat Tee, Thomas, Gilles, Thompson, Alastair M., Tommasi, Stefania, Treilleux, Isabelle, Tutt, Andrew, Ueno, Naoto T., Van Laere, Steven, Van Den Eynden, Gert G., Vermeulen, Peter, Viari, Alain, Vincent-Salomon, Anne, Wong, Bernice H., Yates, Lucy, Zou, Xueqing, Van Deurzen, Carolien H. M., Van De Vijver, Marc J., Van’t Veer, Laura, Ammerpohl, Ole, Aukema, Sietse, Bergmann, Anke K., Bernhart, Stephan H., Borkhardt, Arndt, Borst, Christoph, Burkhardt, Birgit, Claviez, Alexander, Goebler, Maria Elisabeth, Haake, Andrea, Haas, Siegfried, Hansmann, Martin, Hoell, Jessica I., Hummel, Michael, Karsch, Dennis, Klapper, Wolfram, Kneba, Michael, Kreuz, Markus, Kube, Dieter, Küppers, Ralf, Lenze, Dido, Loeffler, Markus, López, Cristina, Mantovani-Löffler, Luisa, Möller, Peter, Ott, German, Radlwimmer, Bernhard, Richter, Julia, Rohde, Marius, Rosenstiel, Philip C., Rosenwald, Andreas, Schilhabel, Markus B., Schreiber, Stefan, Stadler, Peter F., Staib, Peter, Stilgenbauer, Stephan, Sungalee, Stephanie, Szczepanowski, Monika, Toprak, Umut H., Trümper, Lorenz H. P., Wagener, Rabea, Zenz, Thorsten, Hovestadt, Volker, Von Kalle, Christof, Kool, Marcel, Korshunov, Andrey, Landgraf, Pablo, Lehrach, Hans, Northcott, Paul A., Pfister, Stefan M., Reifenberger, Guido, Warnatz, Hans-Jörg, Wolf, Stephan, Yaspo, Marie-Laure, Assenov, Yassen, Gerhauser, Clarissa, Minner, Sarah, Schlomm, Thorsten, Simon, Ronald, Sauter, Guido, Sültmann, Holger, Biswas, Nidhan K., Maitra, Arindam, Majumder, Partha P., Sarin, Rajiv, Barbi, Stefano, Bonizzato, Giada, Cantù, Cinzia, Dei Tos, Angelo P., Fassan, Matteo, Grimaldi, Sonia, Luchini, Claudio, Malleo, Giuseppe, Marchegiani, Giovanni, Milella, Michele, Paiella, Salvatore, Pea, Antonio, Pederzoli, Paolo, Ruzzenente, Andrea, Salvia, Roberto, Sperandio, Nicola, Arai, Yasuhito, Hama, Natsuko, Hiraoka, Nobuyoshi, Hosoda, Fumie, Nakamura, Hiromi, Ojima, Hidenori, Okusaka, Takuji, Totoki, Yasushi, Urushidate, Tomoko, Fukayama, Masashi, Ishikawa, Shumpei, Katai, Hitoshi, Katoh, Hiroto, Komura, Daisuke, Rokutan, Hirofumi, Saito-Adachi, Mihoko, Suzuki, Akihiro, Taniguchi, Hirokazu, Tatsuno, Kenji, Ushiku, Tetsuo, Yachida, Shinichi, Yamamoto, Shogo, Aikata, Hiroshi, Arihiro, Koji, Ariizumi, Shun-Ichi, Chayama, Kazuaki, Furuta, Mayuko, Gotoh, Kunihito, Hayami, Shinya, Hirano, Satoshi, Kawakami, Yoshiiku, Maejima, Kazuhiro, Nakamura, Toru, Nakano, Kaoru, Ohdan, Hideki, Sasaki-Oku, Aya, Tanaka, Hiroko, Ueno, Masaki, Yamamoto, Masakazu, Yamaue, Hiroki, Choo, Su Pin, Cutcutache, Ioana, Khuntikeo, Narong, Ong, Choon Kiat, Pairojkul, Chawalit, Popescu, Irinel, Ahn, Keun Soo, Aymerich, Marta, Lopez-Guillermo, Armando, López-Otín, Carlos, Puente, Xose S., Campo, Elias, Amary, Fernanda, Baumhoer, Daniel, Behjati, Sam, Bjerkehagen, Bodil, Futreal, P. A., Myklebost, Ola, Pillay, Nischalan, Tarpey, Patrick, Tirabosco, Roberto, Zaikova, Olga, Flanagan, Adrienne M., Boultwood, Jacqueline, Bowen, David T., Cazzola, Mario, Green, Anthony R., Hellstrom-Lindberg, Eva, Malcovati, Luca, Nangalia, Jyoti, Papaemmanuil, Elli, Vyas, Paresh, Ang, Yeng, Barr, Hugh, Beardsmore, Duncan, Eldridge, Matthew, Gossage, James, Grehan, Nicola, Hanna, George B., Hayes, Stephen J., Hupp, Ted R., Khoo, David, Lagergren, Jesper, Lovat, Laurence B., MacRae, Shona, O’Donovan, Maria, O’Neill, J. Robert, Parsons, Simon L., Preston, Shaun R., Puig, Sonia, Roques, Tom, Sanders, Grant, Sothi, Sharmila, Tavaré, Simon, Tucker, Olga, Turkington, Richard, Underwood, Timothy J., Welch, Ian, Fitzgerald, Rebecca C., Berney, Daniel M., De Bono, Johann S., Cahill, Declan, Camacho, Niedzica, Dennis, Nening M., Dudderidge, Tim, Edwards, Sandra E., Fisher, Cyril, Foster, Christopher S., Ghori, Mohammed, Gill, Pelvender, Gnanapragasam, Vincent J., Gundem, Gunes, Hamdy, Freddie C., Hawkins, Steve, Hazell, Steven, Howat, William, Isaacs, William B., Karaszi, Katalin, Kay, Jonathan D., Khoo, Vincent, Kote-Jarai, Zsofia, Kremeyer, Barbara, Kumar, Pardeep, Lambert, Adam, Leongamornlert, Daniel A., Livni, Naomi, Lu, Yong-Jie, Luxton, Hayley J., Marsden, Luke, Massie, Charlie E., Matthews, Lucy, Mayer, Erik, McDermott, Ultan, Merson, Sue, Neal, David E., Ng, Anthony, Nicol, David, Ogden, Christopher, Rowe, Edward W., Shah, Nimish C., Thomas, Sarah, Thompson, Alan, Verrill, Clare, Visakorpi, Tapio, Warren, Anne Y., Whitaker, Hayley C., Zhang, Hongwei, Van As, Nicholas, Eeles, Rosalind A., Abeshouse, Adam, Agrawal, Nishant, Akbani, Rehan, Al-Ahmadie, Hikmat, Albert, Monique, Aldape, Kenneth, Ally, Adrian, Appelbaum, Elizabeth L., Armenia, Joshua, Asa, Sylvia, Auman, J. Todd, Balasundaram, Miruna, Balu, Saianand, Barnholtz-Sloan, Jill, Bathe, Oliver F., Baylin, Stephen B., Benz, Christopher, Berchuck, Andrew, Berrios, Mario, Bigner, Darell, Birrer, Michael, Bodenheimer, Tom, Boice, Lori, Bootwalla, Moiz S., Bosenberg, Marcus, Bowlby, Reanne, Boyd, Jeffrey, Broaddus, Russell R., Brock, Malcolm, Brooks, Denise, Bullman, Susan, Caesar-Johnson, Samantha J., Carey, Thomas E., Carlsen, Rebecca, Cerfolio, Robert, Chandan, Vishal S., Chen, Hsiao-Wei, Cherniack, Andrew D., Chien, Jeremy, Cho, Juok, Chuah, Eric, Cibulskis, Carrie, Cope, Leslie, Cordes, Matthew G., Curley, Erin, Czerniak, Bogdan, Danilova, Ludmila, Davis, Ian J., Defreitas, Timothy, Demchok, John A., Dhalla, Noreen, Dhir, Rajiv, Doddapaneni, HarshaVardhan, El-Naggar, Adel, Felau, Ina, Ferguson, Martin L., Finocchiaro, Gaetano, Fong, Kwun M., Frazer, Scott, Friedman, William, Fronick, Catrina C., Fulton, Lucinda A., Gabriel, Stacey B., Gao, Jianjiong, Gehlenborg, Nils, Gershenwald, Jeffrey E., Ghossein, Ronald, Giama, Nasra H., Gibbs, Richard A., Gomez, Carmen, Govindan, Ramaswamy, Hayes, D. Neil, Hegde, Apurva M., Heiman, David I., Heins, Zachary, Hepperla, Austin J., Holbrook, Andrea, Holt, Robert A., Hoyle, Alan P., Hruban, Ralph H., Hu, Jianhong, Huang, Mei, Huntsman, David, Huse, Jason, Iacobuzio-Donahue, Christine A., Ittmann, Michael, Jayaseelan, Joy C., Jefferys, Stuart R., Jones, Corbin D., Jones, Steven J. M., Juhl, Hartmut, Kang, Koo Jeong, Karlan, Beth, Kasaian, Katayoon, Kebebew, Electron, Kim, Hark Kyun, Korchina, Viktoriya, Kundra, Ritika, Lai, Phillip H., Lander, Eric, Le, Xuan, Lee, Darlene, Levine, Douglas A., Lewis, Lora, Ley, Tim, Li, Haiyan Irene, Lin, Pei, Linehan, W. M., Liu, Fei Fei, Lu, Yiling, Lype, Lisa, Ma, Yussanne, Maglinte, Dennis T., Mardis, Elaine R., Marks, Jeffrey, Marra, Marco A., Matthew, Thomas J., Mayo, Michael, McCune, Karen, Meier, Samuel R., Meng, Shaowu, Mieczkowski, Piotr A., Mikkelsen, Tom, Miller, Christopher A., Mills, Gordon B., Moore, Richard A., Morrison, Carl, Mose, Lisle E., Moser, Catherine D., Mungall, Andrew J., Mungall, Karen, Mutch, David, Muzny, Donna M., Myers, Jerome, Newton, Yulia, Noble, Michael S., O’Donnell, Peter, O’Neill, Brian Patrick, Ochoa, Angelica, Park, Joong-Won, Parker, Joel S., Pass, Harvey, Pastore, Alessandro, Pennell, Nathan A., Perou, Charles M., Petrelli, Nicholas, Potapova, Olga, Rader, Janet S., Ramalingam, Suresh, Rathmell, W. Kimryn, Reuter, Victor, Reynolds, Sheila M., Ringel, Matthew, Roach, Jeffrey, Roberts, Lewis R., Robertson, A. Gordon, Sadeghi, Sara, Saller, Charles, Sanchez-Vega, Francisco, Schadendorf, Dirk, Schein, Jacqueline E., Schmidt, Heather K., Schultz, Nikolaus, Seethala, Raja, Senbabaoglu, Yasin, Shelton, Troy, Shi, Yan, Shih, Juliann, Shmulevich, Ilya, Shriver, Craig, Signoretti, Sabina, Simons, Janae V., Singer, Samuel, Sipahimalani, Payal, Skelly, Tara J., Smith-McCune, Karen, Socci, Nicholas D., Soloway, Matthew G., Sood, Anil K., Tam, Angela, Tan, Donghui, Tarnuzzer, Roy, Thiessen, Nina, Thompson, R. Houston, Thorne, Leigh B., Tsao, Ming, Umbricht, Christopher, Van Den Berg, David J., Van Meir, Erwin G., Veluvolu, Umadevi, Voet, Douglas, Wang, Linghua, Weinberger, Paul, Weisenberger, Daniel J., Wigle, Dennis, Wilkerson, Matthew D., Wilson, Richard K., Winterhoff, Boris, Wiznerowicz, Maciej, Wong, Tina, Wong, Winghing, Xi, Liu, Yau, Christina, Zhang, Hailei, Zhang, Hongxin, and Zhang, Jiashan more...
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article ,3. Good health - Abstract
Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5, 6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8, 9; and evaluates a range of more-specialized features of cancer genomes8, 10–18. more...
196. Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
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Meyerson, William U., Dursi, Lewis Jonathan, Wang, Liang-Bo, Dong, Guanlan, Liang, Wen-Wei, Weerasinghe, Amila, Li, Yize, Kelso, Sean, Wendl, Michael C., Simpson, Jared T., Akbani, Rehan, Anur, Pavana, Bailey, Matthew H., Buchanan, Alex, Chiotti, Kami, Covington, Kyle, Creason, Allison, Ding, Li, Ellrott, Kyle, Fan, Yu, Foltz, Steven, Getz, Gad, Hale, Walker, Haussler, David, Hess, Julian M., Hutter, Carolyn M., Kandoth, Cyriac, Kasaian, Katayoon, Kasapi, Melpomeni, Larson, Dave, Leshchiner, Ignaty, Letaw, John, Ma, Singer, McLellan, Michael D., Men, Yifei, Mills, Gordon B., Niu, Beifang, Peto, Myron, Radenbaugh, Amie, Reynolds, Sheila M., Saksena, Gordon, Sofia, Heidi, Stewart, Chip, Struck, Adam J., Stuart, Joshua M., Wang, Wenyi, Weinstein, John N., Wheeler, David A., Wong, Christopher K., Xi, Liu, Ye, Kai, Bieg, Matthias, Boutros, Paul C., Buchhalter, Ivo, Butler, Adam P., Chen, Ken, Chong, Zechen, Drechsel, Oliver, Jonathan Dursi, Lewis, Eils, Roland, Espiritu, Shadrielle M. 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Steven, Bowen, David T., Bowlby, Reanne, Bowtell, David D. L., Boyault, Sandrine, Boyce, Rich, Boyd, Jeffrey, Brazma, Alvis, Brennan, Paul, Brewer, Daniel S., Brinkman, Arie B., Bristow, Robert G., Broaddus, Russell R., Brock, Jane E., Brock, Malcolm, Broeks, Annegien, Brooks, Angela N., Brooks, Denise, Brors, Benedikt, Brunak, Søren, Bruxner, Timothy J. 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Andrew, Füllgrabe, Anja, Gabriel, Stacey B., Gallinger, Steven, Gambacorti-Passerini, Carlo, Gao, Jianjiong, Garraway, Levi, Garred, Øystein, Garrison, Erik, Garsed, Dale W., Gehlenborg, Nils, George, Joshy, Gerhard, Daniela S., Gerhauser, Clarissa, Gershenwald, Jeffrey E., Gerstung, Moritz, Ghori, Mohammed, Ghossein, Ronald, Giama, Nasra H., Gibbs, Richard A., Gill, Anthony J., Gill, Pelvender, Giri, Dilip D., Glodzik, Dominik, Gnanapragasam, Vincent J., Goebler, Maria Elisabeth, Goldman, Mary J., Gomez, Carmen, Gonzalez-Perez, Abel, Gordenin, Dmitry A., Gossage, James, Gotoh, Kunihito, Govindan, Ramaswamy, Grabau, Dorthe, Graham, Janet S., Grant, Robert C., Green, Anthony R., Green, Eric, Greger, Liliana, Grehan, Nicola, Grimaldi, Sonia, Grimmond, Sean M., Grossman, Robert L., Grundhoff, Adam, Gundem, Gunes, Guo, Qianyun, Gupta, Manaswi, Gupta, Shailja, Gut, Marta, Göke, Jonathan, Ha, Gavin, Haake, Andrea, Haan, David, Haas, Siegfried, Haase, Kerstin, Haber, James E., Habermann, Nina, Haider, Syed, Hama, Natsuko, Hamdy, Freddie C., Hamilton, Anne, Hamilton, Mark P., Han, Leng, Hanna, George B., Hansmann, Martin, Haradhvala, Nicholas J., Harismendy, Olivier, Harliwong, Ivon, Harmanci, Arif O., Harrington, Eoghan, Hasegawa, Takanori, Hawkins, Steve, Hayami, Shinya, Hayashi, Shuto, Hayes, D. Neil, Hayes, Stephen J., Hayward, Nicholas K., Hazell, Steven, He, Yao, Heath, Allison P., Heath, Simon C., Hedley, David, Hegde, Apurva M., Heiman, David I., Heins, Zachary, Heisler, Lawrence E., Hellstrom-Lindberg, Eva, Helmy, Mohamed, Heo, Seong Gu, Hepperla, Austin J., Heredia-Genestar, José María, Herrmann, Carl, Hersey, Peter, Hilmarsdottir, Holmfridur, Hirano, Satoshi, Hiraoka, Nobuyoshi, Hoadley, Katherine A., Hobolth, Asger, Hodzic, Ermin, Hoell, Jessica I., Hoffmann, Steve, Hofmann, Oliver, Holbrook, Andrea, Holik, Aliaksei Z., Hollingsworth, Michael A., Holmes, Oliver, Holt, Robert A., Hong, Chen, Hong, Eun Pyo, Hong, Jongwhi H., Hooijer, Gerrit K., Hornshøj, Henrik, Hosoda, Fumie, Hou, Yong, Hovestadt, Volker, Howat, William, Hoyle, Alan P., Hruban, Ralph H., Hu, Jianhong, Hua, Xing, Huang, Kuan-Lin, Huang, Mei, Huang, Mi Ni, Huber, Wolfgang, Hudson, Thomas J., Hummel, Michael, Hung, Jillian A., Huntsman, David, Hupp, Ted R., Huse, Jason, Huska, Matthew R., Hübschmann, Daniel, Iacobuzio-Donahue, Christine A., Imbusch, Charles David, Imielinski, Marcin, Imoto, Seiya, Isaacs, William B., Isaev, Keren, Ishikawa, Shumpei, Iskar, Murat, Islam, S. M. Ashiqul, Ittmann, Michael, Ivkovic, Sinisa, Izarzugaza, Jose M. G., Jacquemier, Jocelyne, Jakrot, Valerie, Jamieson, Nigel B., Jang, Gun Ho, Jang, Se Jin, Jayaseelan, Joy C., Jayasinghe, Reyka, Jefferys, Stuart R., Jegalian, Karine, Jennings, Jennifer L., Jeon, Seung-Hyup, Jerman, Lara, Ji, Yuan, Jiao, Wei, Johansson, Peter A., Johns, Amber L., Johns, Jeremy, Johnson, Rory, Johnson, Todd A., Jolly, Clemency, Joly, Yann, Jonasson, Jon G., Jones, Corbin D., Jones, David T. W., Jones, Nic, Jones, Steven J. M., Jonkers, Jos, Ju, Young Seok, Juhl, Hartmut, Juul, Malene, Juul, Randi Istrup, Juul, Sissel, Kabbe, Rolf, Kahles, Andre, Kahraman, Abdullah, Kaiser, Vera B., Kakavand, Hojabr, Kalimuthu, Sangeetha, Von Kalle, Christof, Kang, Koo Jeong, Karaszi, Katalin, Karlan, Beth, Karlić, Rosa, Karsch, Dennis, Kassahn, Karin S., Katai, Hitoshi, Kato, Mamoru, Katoh, Hiroto, Kawakami, Yoshiiku, Kay, Jonathan D., Kazakoff, Stephen H., Kazanov, Marat D., Keays, Maria, Kebebew, Electron, Kefford, Richard F., Kellis, Manolis, Kench, James G., Kennedy, Catherine J., Kerssemakers, Jules N. A., Khoo, David, Khoo, Vincent, Khuntikeo, Narong, Khurana, Ekta, Kilpinen, Helena, Kim, Hark Kyun, Kim, Hyung-Yong, Kim, Hyunghwan, Kim, Jaegil, Kim, Jihoon, Kim, Jong K., Kim, Youngwook, King, Tari A., Klapper, Wolfram, Klimczak, Leszek J., Knappskog, Stian, Kneba, Michael, Knoppers, Bartha M., Koh, Youngil, Komorowski, Jan, Komura, Daisuke, Komura, Mitsuhiro, Kong, Gu, Kool, Marcel, Korbel, Jan O., Korchina, Viktoriya, Korshunov, Andrey, Koscher, Michael, Koster, Roelof, Kote-Jarai, Zsofia, Koures, Antonios, Kovacevic, Milena, Kremeyer, Barbara, Kretzmer, Helene, Kreuz, Markus, Krishnamurthy, Savitri, Kube, Dieter, Kumar, Kiran, Kumar, Pardeep, Kundra, Ritika, Kübler, Kirsten, Küppers, Ralf, Lagergren, Jesper, Lai, Phillip H., Laird, Peter W., Lakhani, Sunil R., Lalonde, Emilie, Lamaze, Fabien C., Lambert, Adam, Lander, Eric, Landgraf, Pablo, Landoni, Luca, Langerød, Anita, Lanzós, Andrés, Larsimont, Denis, Larsson, Erik, Lathrop, Mark, Lau, Loretta M. S., Lawerenz, Chris, Lawlor, Rita T., Lawrence, Michael S., Lazar, Alexander J., Le, Xuan, Lee, Darlene, Lee, Donghoon, Lee, Eunjung Alice, Lee, Hee Jin, Lee, Jake June-Koo, Lee, Jeong-Yeon, Lee, Juhee, Lee, Ming Ta Michael, Lee-Six, Henry, Lehmann, Kjong-Van, Lehrach, Hans, Lenze, Dido, Leonard, Conrad R., Leongamornlert, Daniel A., Letourneau, Louis, Levine, Douglas A., Lewis, Lora, Ley, Tim, Li, Chang, Li, Constance H., Li, Haiyan Irene, Li, Jun, Li, Lin, Li, Shantao, Li, Siliang, Li, Xiaobo, Li, Xiaotong, Li, Xinyue, Li, Yilong, Liang, Han, Liang, Sheng-Ben, Lichter, Peter, Lin, Pei, Lin, Ziao, Linehan, W. M., Lingjærde, Ole Christian, Liu, Dongbing, Liu, Eric Minwei, Liu, Fei-Fei, Liu, Fenglin, Liu, Jia, Liu, Xingmin, Livingstone, Julie, Livni, Naomi, Lochovsky, Lucas, Loeffler, Markus, Long, Georgina V., Lopez-Guillermo, Armando, Lou, Shaoke, Louis, David N., Lovat, Laurence B., Lu, Yiling, Lu, Yong-Jie, Lu, Youyong, Luchini, Claudio, Lungu, Ilinca, Luo, Xuemei, Luxton, Hayley J., Lynch, Andy G., Lype, Lisa, López, Cristina, López-Otín, Carlos, Ma, Yussanne, MacGrogan, Gaetan, MacRae, Shona, Macintyre, Geoff, Madsen, Tobias, Maejima, Kazuhiro, Mafficini, Andrea, Maglinte, Dennis T., Maitra, Arindam, Majumder, Partha P., Malcovati, Luca, Malikic, Salem, Malleo, Giuseppe, Mann, Graham J., Mantovani-Löffler, Luisa, Marchal, Kathleen, Marchegiani, Giovanni, Mardis, Elaine R., Margolin, Adam A., Marin, Maximillian G., Markowetz, Florian, Markowski, Julia, Marks, Jeffrey, Marques-Bonet, Tomas, Marra, Marco A., Marsden, Luke, Martens, John W. M., Martin, Sancha, Martin-Subero, Jose I., Martincorena, Iñigo, Martinez-Fundichely, Alexander, Massie, Charlie E., Matthew, Thomas J., Matthews, Lucy, Mayer, Erik, Mayes, Simon, Mayo, Michael, Mbabaali, Faridah, McCune, Karen, McDermott, Ultan, McGillivray, Patrick D., McPherson, John D., McPherson, John R., McPherson, Treasa A., Meier, Samuel R., Meng, Alice, Meng, Shaowu, Merrett, Neil D., Merson, Sue, Meyerson, Matthew, Mieczkowski, Piotr A., Mihaiescu, George L., Mijalkovic, Sanja, Mijalkovic-Lazic, Ana Mijalkovic, Mikkelsen, Tom, Milella, Michele, Mileshkin, Linda, Miller, Christopher A., Miller, David K., Miller, Jessica K., Minner, Sarah, Miotto, Marco, Arnau, Gisela Mir, Mirabello, Lisa, Mitchell, Chris, Mitchell, Thomas J., Miyano, Satoru, Miyoshi, Naoki, Mizuno, Shinichi, Molnár-Gábor, Fruzsina, Moore, Malcolm J., Moore, Richard A., Morganella, Sandro, Morris, Quaid D., Morrison, Carl, Mose, Lisle E., Moser, Catherine D., Muiños, Ferran, Mularoni, Loris, Mungall, Andrew J., Mungall, Karen, Musgrove, Elizabeth A., Mustonen, Ville, Mutch, David, Muyas, Francesc, Muzny, Donna M., Muñoz, Alfonso, Myers, Jerome, Myklebost, Ola, Möller, Peter, Nagae, Genta, Nagrial, Adnan M., Nahal-Bose, Hardeep K., Nakagama, Hitoshi, Nakagawa, Hidewaki, Nakamura, Hiromi, Nakamura, Toru, Nakano, Kaoru, Nandi, Tannistha, Nangalia, Jyoti, Nastic, Mia, Navarro, Arcadi, Navarro, Fabio C. P., Neal, David E., Nettekoven, Gerd, Newell, Felicity, Newhouse, Steven J., Newton, Yulia, Ng, Alvin Wei Tian, Ng, Anthony, Nicholson, Jonathan, Nicol, David, Nie, Yongzhan, Nielsen, G. Petur, Nik-Zainal, Serena, Noble, Michael S., Nones, Katia, Northcott, Paul A., Notta, Faiyaz, O’Connor, Brian D., O’Donnell, Peter, O’Donovan, Maria, O’Meara, Sarah, O’Neill, Brian Patrick, O’Neill, J. Robert, Ocana, David, Ochoa, Angelica, Oesper, Layla, Ogden, Christopher, Ohdan, Hideki, Ohi, Kazuhiro, Ohno-Machado, Lucila, Oien, Karin A., Ojesina, Akinyemi I., Ojima, Hidenori, Okusaka, Takuji, Omberg, Larsson, Ong, Choon Kiat, Ott, German, Ouellette, B. F. Francis, P’ng, Christine, Paczkowska, Marta, Paiella, Salvatore, Pairojkul, Chawalit, Pajic, Marina, Pan-Hammarström, Qiang, Papaemmanuil, Elli, Papatheodorou, Irene, Park, Ji Wan, Park, Joong-Won, Park, Keunchil, Park, Kiejung, Park, Peter J., Parker, Joel S., Parsons, Simon L., Pass, Harvey, Pasternack, Danielle, Pastore, Alessandro, Patch, Ann-Marie, Pauporté, Iris, Pea, Antonio, Pearson, John V., Pedamallu, Chandra Sekhar, Pederzoli, Paolo, Peifer, Martin, Pennell, Nathan A., Perou, Charles M., Petersen, Gloria M., Petrelli, Nicholas, Petryszak, Robert, Pfister, Stefan M., Phillips, Mark, Pich, Oriol, Pickett, Hilda A., Pihl, Todd D., Pillay, Nischalan, Pinder, Sarah, Pinese, Mark, Pinho, Andreia V., Pitkänen, Esa, Pivot, Xavier, Piñeiro-Yáñez, Elena, Planko, Laura, Plass, Christoph, Polak, Paz, Pons, Tirso, Popescu, Irinel, Potapova, Olga, Prasad, Aparna, Preston, Shaun R., Prinz, Manuel, Pritchard, Antonia L., Prokopec, Stephenie D., Provenzano, Elena, Puente, Xose S., Puig, Sonia, Pulido-Tamayo, Sergio, Pupo, Gulietta M., Purdie, Colin A., Quinn, Michael C., Rabionet, Raquel, Rader, Janet S., Radlwimmer, Bernhard, Radovic, Petar, Raeder, Benjamin, Ramakrishna, Manasa, Ramakrishnan, Kamna, Ramalingam, Suresh, Raphael, Benjamin J., Rathmell, W. Kimryn, Rausch, Tobias, Reifenberger, Guido, Reimand, Jüri, Reis-Filho, Jorge, Reuter, Victor, Reyes-Salazar, Iker, Reyna, Matthew A., Riazalhosseini, Yasser, Richardson, Andrea L., Richter, Julia, Ringel, Matthew, Ringnér, Markus, Rino, Yasushi, Rippe, Karsten, Roach, Jeffrey, Roberts, Lewis R., Roberts, Nicola D., Roberts, Steven A., Robertson, A. Gordon, Robertson, Alan J., Rodriguez, Javier Bartolomé, Rodriguez-Martin, Bernardo, Rodríguez-González, F. Germán, Roehrl, Michael H. A., Rohde, Marius, Rokutan, Hirofumi, Romieu, Gilles, Rooman, Ilse, Roques, Tom, Rosebrock, Daniel, Rosenberg, Mara, Rosenstiel, Philip C., Rosenwald, Andreas, Rowe, Edward W., Rozen, Steven G., Rubanova, Yulia, Rubin, Mark A., Rubio-Perez, Carlota, Rudneva, Vasilisa A., Rusev, Borislav C., Ruzzenente, Andrea, Rätsch, Gunnar, Sabarinathan, Radhakrishnan, Sabelnykova, Veronica Y., Sadeghi, Sara, Saini, Natalie, Saito-Adachi, Mihoko, Salcedo, Adriana, Salgado, Roberto, Salichos, Leonidas, Sallari, Richard, Saller, Charles, Salvia, Roberto, Sam, Michelle, Samra, Jaswinder S., Sanchez-Vega, Francisco, Sander, Chris, Sanders, Grant, Sarin, Rajiv, Sasaki-Oku, Aya, Sauer, Torill, Sauter, Guido, Saw, Robyn P. M., Scardoni, Maria, Scarlett, Christopher J., Scarpa, Aldo, Scelo, Ghislaine, Schadendorf, Dirk, Schein, Jacqueline E., Schilhabel, Markus B., Schlomm, Thorsten, Schmidt, Heather K., Schramm, Sarah-Jane, Schreiber, Stefan, Schultz, Nikolaus, Schumacher, Steven E., Schwarz, Roland F., Scolyer, Richard A., Scott, David, Scully, Ralph, Seethala, Raja, Segre, Ayellet V., Selander, Iris, Semple, Colin A., Senbabaoglu, Yasin, Sengupta, Subhajit, Sereni, Elisabetta, Serra, Stefano, Sgroi, Dennis C., Shackleton, Mark, Shah, Nimish C., Shahabi, Sagedeh, Shang, Catherine A., Shang, Ping, Shapira, Ofer, Shelton, Troy, Shen, Ciyue, Shen, Hui, Shepherd, Rebecca, Shi, Ruian, Shi, Yan, Shiah, Yu-Jia, Shibata, Tatsuhiro, Shih, Juliann, Shimizu, Eigo, Shimizu, Kiyo, Shin, Seung Jun, Shiraishi, Yuichi, Shmaya, Tal, Shmulevich, Ilya, Shorser, Solomon I., Short, Charles, Shrestha, Raunak, Shringarpure, Suyash S., Shriver, Craig, Shuai, Shimin, Sidiropoulos, Nikos, Siebert, Reiner, Sieuwerts, Anieta M., Sieverling, Lina, Signoretti, Sabina, Sikora, Katarzyna O., Simbolo, Michele, Simon, Ronald, Simons, Janae V., Simpson, Peter T., Singer, Samuel, Sinnott-Armstrong, Nasa, Sipahimalani, Payal, Skelly, Tara J., Smid, Marcel, Smith, Jaclyn, Smith-McCune, Karen, Socci, Nicholas D., Sofia, Heidi J., Soloway, Matthew G., Song, Lei, Sood, Anil K., Sothi, Sharmila, Sotiriou, Christos, Soulette, Cameron M., Span, Paul N., Spellman, Paul T., Sperandio, Nicola, Spillane, Andrew J., Spiro, Oliver, Spring, Jonathan, Staaf, Johan, Stadler, Peter F., Staib, Peter, Stark, Stefan G., Stefánsson, Ólafur Andri, Stegle, Oliver, Stein, Lincoln D., Stenhouse, Alasdair, Stilgenbauer, Stephan, Stratton, Michael R., Stretch, Jonathan R., Stunnenberg, Henk G., Su, Hong, Su, Xiaoping, Sun, Ren X., Sungalee, Stephanie, Susak, Hana, Suzuki, Akihiro, Sweep, Fred, Szczepanowski, Monika, Sültmann, Holger, Yugawa, Takashi, Tam, Angela, Tamborero, David, Tan, Benita Kiat Tee, Tan, Donghui, Tan, Patrick, Tanaka, Hiroko, Taniguchi, Hirokazu, Tanskanen, Tomas J., Tarabichi, Maxime, Tarnuzzer, Roy, Tarpey, Patrick, Taschuk, Morgan L., Tatsuno, Kenji, Tavaré, Simon, Taylor, Darrin F., Taylor-Weiner, Amaro, Teh, Bin Tean, Tembe, Varsha, Temes, Javier, Thai, Kevin, Thayer, Sarah P., Thiessen, Nina, Thomas, Gilles, Thomas, Sarah, Thompson, Alan, Thompson, Alastair M., Thompson, John F., Thompson, R. Houston, Thorne, Heather, Thorne, Leigh B., Thorogood, Adrian, Tijanic, Nebojsa, Timms, Lee E., Tirabosco, Roberto, Tojo, Marta, Tommasi, Stefania, Toon, Christopher W., Toprak, Umut H., Tortora, Giampaolo, Tost, Jörg, Totoki, Yasushi, Townend, David, Traficante, Nadia, Treilleux, Isabelle, Trotta, Jean-Rémi, Trümper, Lorenz H. P., Tsao, Ming, Tsunoda, Tatsuhiko, Tubio, Jose M. C., Tucker, Olga, Turkington, Richard, Turner, Daniel J., Tutt, Andrew, Ueno, Masaki, Ueno, Naoto T., Umbricht, Christopher, Umer, Husen M., Underwood, Timothy J., Urban, Lara, Urushidate, Tomoko, Ushiku, Tetsuo, Uusküla-Reimand, Liis, Valencia, Alfonso, Van Den Berg, David J., Van Laere, Steven, Van Loo, Peter, Van Meir, Erwin G., Van Den Eynden, Gert G., Van Der Kwast, Theodorus, Vasudev, Naveen, Vazquez, Miguel, Vedururu, Ravikiran, Veluvolu, Umadevi, Vembu, Shankar, Verbeke, Lieven P. C., Vermeulen, Peter, Verrill, Clare, Viari, Alain, Vicente, David, Vicentini, Caterina, Raghavan, K. 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M., Van De Vijver, Marc J., Van’t Veer, L., and Von Mering, Christian more...
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692/4028/67/69 ,706/648/697/129/2043 ,631/114/2399 ,article ,45/23 ,139 ,631/1647/2217/748 ,3. Good health - Abstract
Funder: NCI U24CA211006, The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts. more...
197. Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
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Meyerson, William U., Dursi, Lewis Jonathan, Wang, Liang-Bo, Dong, Guanlan, Liang, Wen-Wei, Weerasinghe, Amila, Li, Yize, Kelso, Sean, Wendl, Michael C., Simpson, Jared T., Akbani, Rehan, Anur, Pavana, Bailey, Matthew H., Buchanan, Alex, Chiotti, Kami, Covington, Kyle, Creason, Allison, Ding, Li, Ellrott, Kyle, Fan, Yu, Foltz, Steven, Getz, Gad, Hale, Walker, Haussler, David, Hess, Julian M., Hutter, Carolyn M., Kandoth, Cyriac, Kasaian, Katayoon, Kasapi, Melpomeni, Larson, Dave, Leshchiner, Ignaty, Letaw, John, Ma, Singer, McLellan, Michael D., Men, Yifei, Mills, Gordon B., Niu, Beifang, Peto, Myron, Radenbaugh, Amie, Reynolds, Sheila M., Saksena, Gordon, Sofia, Heidi, Stewart, Chip, Struck, Adam J., Stuart, Joshua M., Wang, Wenyi, Weinstein, John N., Wheeler, David A., Wong, Christopher K., Xi, Liu, Ye, Kai, Bieg, Matthias, Boutros, Paul C., Buchhalter, Ivo, Butler, Adam P., Chen, Ken, Chong, Zechen, Drechsel, Oliver, Jonathan Dursi, Lewis, Eils, Roland, Espiritu, Shadrielle M. G., Fulton, Robert S., Gao, Shengjie, Gelpi, Josep L. L., Gerstein, Mark B., Gonzalez, Santiago, Gut, Ivo G., Hach, Faraz, Heinold, Michael C., Hinton, Jonathan, Hu, Taobo, Huang, Vincent, Huang, Yi, Hutter, Barbara, Jones, David R., Jung, Jongsun, Jäger, Natalie, Kim, Hyung-Lae, Kleinheinz, Kortine, Kumar, Sushant, Kumar, Yogesh, Lalansingh, Christopher M., Letunic, Ivica, Livitz, Dimitri, Ma, Eric Z., Maruvka, Yosef E., Mashl, R. Jay, Menzies, Andrew, Milovanovic, Ana, Nielsen, Morten Muhlig, Ossowski, Stephan, Paramasivam, Nagarajan, Pedersen, Jakob Skou, Perry, Marc D., Puiggròs, Montserrat, Raine, Keiran M., Rheinbay, Esther, Royo, Romina, Sahinalp, S. Cenk, Sarrafi, Iman, Schlesner, Matthias, Stebbings, Lucy, Stobbe, Miranda D., Teague, Jon W., Tiao, Grace, Torrents, David, Wala, Jeremiah A., Wang, Jiayin, Waszak, Sebastian M., Weischenfeldt, Joachim, Werner, Johannes, Wu, Zhenggang, Xue, Hong, Yakneen, Sergei, Yamaguchi, Takafumi N., Yellapantula, Venkata D., Yung, Christina K., Zhang, Junjun, Aaltonen, Lauri A., Abascal, Federico, Abeshouse, Adam, Aburatani, Hiroyuki, Adams, David J., Agrawal, Nishant, Ahn, Keun Soo, Ahn, Sung-Min, Aikata, Hiroshi, Akdemir, Kadir C., Al-Ahmadie, Hikmat, Al-Sedairy, Sultan T., Al-Shahrour, Fatima, Alawi, Malik, Albert, Monique, Aldape, Kenneth, Alexandrov, Ludmil B., Ally, Adrian, Alsop, Kathryn, Alvarez, Eva G., Amary, Fernanda, Amin, Samirkumar B., Aminou, Brice, Ammerpohl, Ole, Anderson, Matthew J., Ang, Yeng, Antonello, Davide, Aparicio, Samuel, Appelbaum, Elizabeth L., Arai, Yasuhito, Aretz, Axel, Arihiro, Koji, Ariizumi, Shun-Ichi, Armenia, Joshua, Arnould, Laurent, Asa, Sylvia, Assenov, Yassen, Atwal, Gurnit, Aukema, Sietse, Auman, J. Todd, Aure, Miriam R., Awadalla, Philip, Aymerich, Marta, Bader, Gary D., Baez-Ortega, Adrian, Bailey, Peter J., Balasundaram, Miruna, Balu, Saianand, Bandopadhayay, Pratiti, Banks, Rosamonde E., Barbi, Stefano, Barbour, Andrew P., Barenboim, Jonathan, Barnholtz-Sloan, Jill, Barr, Hugh, Barrera, Elisabet, Bartlett, John, Bartolome, Javier, Bassi, Claudio, Bathe, Oliver F., Baumhoer, Daniel, Bavi, Prashant, Baylin, Stephen B., Bazant, Wojciech, Beardsmore, Duncan, Beck, Timothy A., Behjati, Sam, Behren, Andreas, Bell, Cindy, Beltran, Sergi, Benz, Christopher, Berchuck, Andrew, Bergmann, Anke K., Bergstrom, Erik N., Berman, Benjamin P., Berney, Daniel M., Bernhart, Stephan H., Beroukhim, Rameen, Berrios, Mario, Bersani, Samantha, Bertl, Johanna, Betancourt, Miguel, Bhandari, Vinayak, Bhosle, Shriram G., Biankin, Andrew V., Bigner, Darell, Binder, Hans, Birney, Ewan, Birrer, Michael, Biswas, Nidhan K., Bjerkehagen, Bodil, Bodenheimer, Tom, Boice, Lori, Bonizzato, Giada, De Bono, Johann S., Boot, Arnoud, Bootwalla, Moiz S., Borg, Ake, Borkhardt, Arndt, Boroevich, Keith A., Borozan, Ivan, Borst, Christoph, Bosenberg, Marcus, Bosio, Mattia, Boultwood, Jacqueline, Bourque, Guillaume, Bova, G. Steven, Bowen, David T., Bowlby, Reanne, Bowtell, David D. L., Boyault, Sandrine, Boyce, Rich, Boyd, Jeffrey, Brazma, Alvis, Brennan, Paul, Brewer, Daniel S., Brinkman, Arie B., Bristow, Robert G., Broaddus, Russell R., Brock, Jane E., Brock, Malcolm, Broeks, Annegien, Brooks, Angela N., Brooks, Denise, Brors, Benedikt, Brunak, Søren, Bruxner, Timothy J. 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Francis, P’ng, Christine, Paczkowska, Marta, Paiella, Salvatore, Pairojkul, Chawalit, Pajic, Marina, Pan-Hammarström, Qiang, Papaemmanuil, Elli, Papatheodorou, Irene, Park, Ji Wan, Park, Joong-Won, Park, Keunchil, Park, Kiejung, Park, Peter J., Parker, Joel S., Parsons, Simon L., Pass, Harvey, Pasternack, Danielle, Pastore, Alessandro, Patch, Ann-Marie, Pauporté, Iris, Pea, Antonio, Pearson, John V., Pedamallu, Chandra Sekhar, Pederzoli, Paolo, Peifer, Martin, Pennell, Nathan A., Perou, Charles M., Petersen, Gloria M., Petrelli, Nicholas, Petryszak, Robert, Pfister, Stefan M., Phillips, Mark, Pich, Oriol, Pickett, Hilda A., Pihl, Todd D., Pillay, Nischalan, Pinder, Sarah, Pinese, Mark, Pinho, Andreia V., Pitkänen, Esa, Pivot, Xavier, Piñeiro-Yáñez, Elena, Planko, Laura, Plass, Christoph, Polak, Paz, Pons, Tirso, Popescu, Irinel, Potapova, Olga, Prasad, Aparna, Preston, Shaun R., Prinz, Manuel, Pritchard, Antonia L., Prokopec, Stephenie D., Provenzano, Elena, Puente, Xose S., Puig, Sonia, Pulido-Tamayo, Sergio, Pupo, Gulietta M., Purdie, Colin A., Quinn, Michael C., Rabionet, Raquel, Rader, Janet S., Radlwimmer, Bernhard, Radovic, Petar, Raeder, Benjamin, Ramakrishna, Manasa, Ramakrishnan, Kamna, Ramalingam, Suresh, Raphael, Benjamin J., Rathmell, W. 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M., Van De Vijver, Marc J., Van’t Veer, L., and Von Mering, Christian more...
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692/4028/67/69 ,706/648/697/129/2043 ,631/114/2399 ,article ,45/23 ,139 ,631/1647/2217/748 ,3. Good health - Abstract
Funder: NCI U24CA211006, The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts. more...
198. Beringia and the peopling of the Western Hemisphere.
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Hoffecker, John F., Elias, Scott A., Scott, G. Richard, O'Rourke, Dennis H., Hlusko, Leslea J., Potapova, Olga, Pitulko, Vladimir, Pavlova, Elena, Bourgeon, Lauriane, and Vachula, Richard S.
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TUNDRAS , *LAST Glacial Maximum , *CORRIDORS (Ecology) , *ICE sheets , *CONTINENTAL shelf , *COMMUNITIES , *ACCESS control - Abstract
Did Beringian environments represent an ecological barrier to humans until less than 15 000 years ago or was access to the Americas controlled by the spatial–temporal distribution of North American ice sheets? Beringian environments varied with respect to climate and biota, especially in the two major areas of exposed continental shelf. The East Siberian Arctic Shelf ('Great Arctic Plain' (GAP)) supported a dry steppe-tundra biome inhabited by a diverse large-mammal community, while the southern Bering-Chukchi Platform ('Bering Land Bridge' (BLB)) supported mesic tundra and probably a lower large-mammal biomass. A human population with west Eurasian roots occupied the GAP before the Last Glacial Maximum (LGM) and may have accessed mid-latitude North America via an interior ice-free corridor. Re-opening of the corridor less than 14 000 years ago indicates that the primary ancestors of living First Peoples, who already had spread widely in the Americas at this time, probably dispersed from the NW Pacific coast. A genetic 'arctic signal' in non-arctic First Peoples suggests that their parent population inhabited the GAP during the LGM, before their split from the former. We infer a shift from GAP terrestrial to a subarctic maritime economy on the southern BLB coast before dispersal in the Americas from the NW Pacific coast. [ABSTRACT FROM AUTHOR] more...
- Published
- 2023
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199. Conformational transitions in DNA polymerase I revealed by single-molecule FRET.
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Santoso, Yusdi, Joyce, Catherine M., Potapova, Olga, Le Reste, Ludovic, Hohibein, Johannes, Torella, Joseph P., Grindley, Nigel D. F., and Kapanidis, Achillefs N.
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DNA polymerases , *ENERGY transfer , *PROTEINS , *DEOXYRIBONUCLEOTIDES , *DNA - Abstract
The remarkable fidelity of most DNA polymerases depends on a series of early steps in the reaction pathway which allow the selection of the correct nucleotide substrate, while excluding all incorrect ones, before the enzyme is committed to the chemical step of nucleotide incorporation. The conformational transitions that are involved in these early steps are detectable with a variety of fluorescence assays and include the fingers-closing transition that has been characterized in structural studies. Using DNA polymerase I (Klenow fragment) labeled with both donor and acceptor fluorophores, we have employed single-molecule fluorescence resonance energy transfer to study the polyñerase conformational transitions that precede nucleotide addition. Our experiments clearly distinguish the open and closed conformations that predominate in Pol-DNA and Pol-DNA-dNTP complexes, respectively. By contrast, the unliganded polymerase shows a broad distribution of FRET values, indicating a high degree of conformational flexibility in the protein in the absence of its substrates; such flexibility was not anticipated on the basis of the available crystallographic structures. Real-time observation of conformational dynamics showed that most of the unliganded polymerase molecules sample the open and closed conformations in the millisecond timescale. Ternary complexes formed in the presence of mismatched dNTPs or complementary ribonucleotides show unique FRET species, which we suggest are relevant to kinetic checkpoints that discriminate against these incorrect substrates. [ABSTRACT FROM AUTHOR] more...
- Published
- 2010
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200. The Properties of Steric Gate Mutants Reveal Different Constraints within the Active Sites of Y-family and A-family DNA Polymerases.
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DeLucia, Angela M., Chaudhuri, Santanov, Potapova, Olga, Grindley, Nigel D. F., and Joyce, Catherine M.
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DNA polymerases , *TRANSFERASES , *ENZYMES , *POLYMERASE chain reaction , *POLYMERIZATION , *NUCLEIC acids , *DNA - Abstract
Y-family (lesion-bypass) DNA polymerases show the same overall structural features seen in other members of the polymerase superfamily, yet their active sites are more open, with fewer contacts to the DNA and nucleotide substrates. This raises the question of whether analogous active-site side chains play equivalent roles in the bypass polymerases and their classical DNA polymerase counterparts. In Klenow fragment, an A-family DNA polymerase, the steric gate side chain (Glu710) not only prevents ribonucleotide incorporation but also plays an important role in discrimination against purine-pyrimidine mispairs. In this work we show that the steric gate (Phe12) of the Y-family polymerase Dbh plays a very minor role in fidelity, despite its analogous role in sugar selection. Using ribonucleotide discrimination to report on the positioning of a mispaired dNTP, we found that the pyrimidine of a Pu-dPyTP nascent mispair occupies a similar position to that of a correctly paired dNTP in the Dbh active site, whereas in Klenow fragment the mispaired dNTP sits higher in the active site pocket. If purine-pyrimidine mispairs adopt the expected wobble geometry, the difference between the two polymerases can be attributed to the binding of the templating base, with the looser binding site of Dbh permitting a variety of template conformations with only minimal adjustment at the incoming dNTP. In Klenow fragment the templating base is more rigidly held, so that changes in base pair geometry would affect the dNTP position, allowing the Glu710 side chain to serve as a sensor of nascent mispairs. [ABSTRACT FROM AUTHOR] more...
- Published
- 2006
- Full Text
- View/download PDF
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