Browsing by Author "Rubio Pérez, Carlota, 1990-"

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  • Tamborero Noguera, David; Rubio Pérez, Carlota, 1990-; Déu Pons, Jordi; Schroeder, Michael Philipp, 1986-; Vivancos Prellezo, Ana; Rovira Guerín, Ana; Tusquets Trias de Bes, Ignacio; Albanell Mestres, Joan; Rodon, Jordi; Tabernero Cartula, Josep; Torres, Carmen de; Dienstmann, Rodrigo; González-Pérez, Abel; López Bigas, Núria (BioMed Central, 2018)
    While tumor genome sequencing has become widely available in clinical and research settings, the interpretation of tumor somatic variants remains an important bottleneck. Here we present the Cancer Genome Interpreter, a ...
  • Shuai, Shimin; PCAWG Drivers and Functional Interpretation Working Group; Gallinger, Steven; Stein, Lincoln D.; PCAWG Consortium; Deu-Pons, Jordi; Gut, Ivo Glynne; Muiños, Ferran; Mularoni, Loris; Rubio Pérez, Carlota, 1990-; Tamborero Noguera, David (Nature Research, 2020)
    The discovery of driver mutations is one of the key motivations for cancer genome sequencing. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing ...
  • Rubio Pérez, Carlota, 1990-; Güney, Emre, 1983-; Aguilar, Daniel; Piñero González, Janet, 1977-; García-García, Javier, 1982-; Iadarola, Barbara; Sanz, Ferran; Fernández Fuentes, Narcís; Furlong, Laura I., 1971-; Oliva Miguel, Baldomero (Nature Publishing Group, 2017)
    Understanding relationships between diseases, such as comorbidities, has important socio-economic implications, ranging from clinical study design to health care planning. Most studies characterize disease comorbidity using ...
  • Rubio Pérez, Carlota, 1990-; Tamborero Noguera, David; Schroeder, Michael Philipp, 1986-; Antolín Hernández, Albert, 1984-; Déu Pons, Jordi; Pérez Llamas, Christian, 1976-; Mestres i López, Jordi; González-Pérez, Abel; López Bigas, Núria (Elsevier, 2015)
    Large efforts dedicated to detect somatic alterations across tumor genomes/exomes are expected to produce significant improvements in precision cancer medicine. However, high inter-tumor heterogeneity is a major obstacle ...
  • Biton, Anne; Bernard-Pierrot, Isabelle; Lou, Yinjun; Krucker, Clémentine; Chapeaublanc, Elodie; Rubio Pérez, Carlota, 1990-; López Bigas, Núria; Kamoun, Aurélie; Neuzillet, Yann; Gestraud, Pierre; Grieco, Luca; Rebouissou, Sandra; deReyniès, Aurélien; Benhamou, Simone; Lebret, Thierry; Southgate, Jennifer; Barillot, Emmanuel; Allory, Yves; Zinovyev, Andrei; Radvanyi, François (Elsevier, 2014)
    Extracting relevant information from large-scale data offers unprecedented opportunities in cancerology. We applied independent component analysis (ICA) to bladder cancer transcriptome data sets and interpreted the components ...
  • Karube, Kennosuke; Rubio Pérez, Carlota, 1990-; Tamborero Noguera, David; Salar Silvestre, Antonio; Colomo Saperas, Luis Alberto; López Bigas, Núria; Miyoshi, Hiroaki (Nature Publishing Group, 2018)
    Genome studies of diffuse large B-cell lymphoma (DLBCL) have revealed a large number of somatic mutations and structural alterations. However, the clinical significance of these alterations is still not well defined. In ...
  • Schroeder, Michael Philipp, 1986-; Rubio Pérez, Carlota, 1990-; Tamborero Noguera, David; González-Pérez, Abel; López Bigas, Núria (Oxford University Press, 2014)
    MOTIVATION: Several computational methods have been developed to identify cancer drivers genes-genes responsible for cancer development upon specific alterations. These alterations can cause the loss of function (LoF) of ...
  • ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium; Deminov, German M.; Drechsel, Oliver; Ossowski, Stephan; Estivill, Xavier, 1955-; Escaramís, Geòrgia; Bosio, Mattia; Holik, Aliaksei Z.; Susak, Hana; Rabionet, Raquel; Stobbe, Miranda D.; Marquès i Bonet, Tomàs, 1975-; Navarro i Cuartiellas, Arcadi, 1969-; Gut, Ivo Glynne; Beltran, Sergi; Gut, Marta; Trotta, Jean-Remi; Whalley, Justin P.; Heath, Simon; Prasad, Aparna; Heredia Genestar, José María, 1985-; Sabarinathan, Radhakrishnan; Pich, Oriol; Gonzalez-Perez, Abel; Rubio Pérez, Carlota, 1990-; Tamborero Noguera, David; Mularoni, Loris; Deu-Pons, Jordi; Muiños, Ferran; Muyas Remolar, Francesc, 1992- (Nature Research, 2020)
    Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale . Here we report the integrative analysis of 2,658 ...
  • Reyna, Matthew A.; Haan, David; Paczkowska, Marta; Verbeke, Lieven P.C.; Vazquez, Miguel; Kahraman, Abdullah; Pulido-Tamayo, Sergio; Barenboim, Jonathan; Wadi, Lina; Dhingra, Priyanka; Shrestha, Raunak; Getz, Gad; Lawrence, Michael S.; Pedersen, Jackob S.; Rubin, Mark A.; Wheeler, David A.; Brunak, Søren; Izarzugaza, Jose M.G.; PCAWG Drivers and Functional Interpretation Working Group; PCAWG Consortium; Deu-Pons, Jordi; Gut, Ivo Glynne; Muiños, Ferran; Mularoni, Loris; Rubio Pérez, Carlota, 1990-; Tamborero Noguera, David (Nature Research, 2020)
    The catalog of cancer driver mutations in protein-coding genes has greatly expanded in the past decade. However, non-coding cancer driver mutations are less well-characterized and only a handful of recurrent non-coding ...
  • Rubio Pérez, Carlota, 1990-; Déu Pons, Jordi; Tamborero Noguera, David; López Bigas, Núria; González-Pérez, Abel (BioMed Central, 2016)
    BACKGROUND: Profiling the somatic mutations of genes which may inform about tumor evolution, prognostics and treatment is becoming a standard tool in clinical oncology. Commercially available cancer gene panels rely on ...
  • Rubio Pérez, Carlota, 1990- (Universitat Pompeu Fabra, 2017-11-28)
    Cancer is a disease of the genome. The study of tumor genomic alterations is used to guide several precision medicine strategies, some approved and a large number under clinical development. On the other hand, the study ...