Browsing by Author "Gonzalez-Perez, Abel"

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  • Rheinbay, Esther; Sabarinathan, Radhakrishnan; Mularoni, Loris; Gonzalez-Perez, Abel; Pich, Oriol; Tamborero Noguera, David; López Bigas, Núria; Getz, Gad; PCAWG Consortium (Nature Research, 2020)
    The discovery of drivers of cancer has traditionally focused on protein-coding genes1-4. Here we present analyses of driver point mutations and structural variants in non-coding regions across 2,658 genomes from the ...
  • Bonet, Jose; Chen, Mandi; Dabad, Marc; Heath, Simon; Gonzalez-Perez, Abel; López Bigas, Núria; Lagergren, Jens (Oxford University Press, 2021)
    Motivation: DNA Methylation plays a key role in a variety of biological processes. Recently, Nanopore long-read sequencing has enabled direct detection of these modifications. As a consequence, a range of computational ...
  • Palafox, Marta; Gonzalez-Perez, Abel; Arribas, Joaquín; López Bigas, Núria; Serra, Violeta (Nature Research, 2022)
    CDK4/6 inhibitors combined with endocrine therapy have demonstrated higher antitumor activity than endocrine therapy alone for the treatment of advanced estrogen receptor-positive breast cancer. Some of these tumors are ...
  • Gonzalez-Perez, Abel; Pérez Llamas, Christian, 1976; Deu Pons, Jordi; Tamborero Noguera, David; Schroeder, Michael Philipp,1986-; Jené i Sanz, Alba, 1984-; Santos, Alberto; López Bigas, Núria (Nature Research, 2013)
    The IntOGen-mutations platform (http://www.intogen.org/mutations/) summarizes somatic mutations, genes and pathways involved in tumorigenesis. It identifies and visualizes cancer drivers, analyzing 4,623 exomes from 13 ...
  • Cebrià i Costa, Joan Pau, 1989-; Pascual-Reguant, Laura; Gonzalez-Perez, Abel; Serra Bardenys, Gemma, 1992-; Querol, J.; Cosín, M.; Verde, Gaetano; Cigliano, Riccardo Aiese; Sanseverino, Walter; Segura-Bayona, Sandra; Iturbide Martínez de Albéniz, Ane, 1989-; Andreu Martínez, David; Nuciforo, Paolo G.; Bernado-Morales, C.; Rodilla, Verónica; Arribas, Joaquín; Yélamos López, José; García de Herreros, Antonio; Stracker, Travis; Peiró Sales, Sandra (Nature Research, 2020)
    Oxidation of H3 at lysine 4 (H3K4ox) by lysyl oxidase-like 2 (LOXL2) generates an H3 modification with an unknown physiological function. We find that LOXL2 and H3K4ox are higher in triple-negative breast cancer (TNBC) ...
  • Piñero González, Janet, 1977-; Gonzalez-Perez, Abel; Guney, Emre; Aguirre Plans, Joaquim, 1993-; Sanz, Ferran; Oliva Miguel, Baldomero; Furlong, Laura I., 1971- (Frontiers, 2018)
    Understanding the mechanisms underlying drug therapeutic action and toxicity is crucial for the prevention and management of drug adverse reactions, and paves the way for a more efficient and rational drug design. The ...
  • Sabarinathan, Radhakrishnan; Mularoni, Loris; Deu-Pons, Jordi; Gonzalez-Perez, Abel; López Bigas, Núria (Nature Publishing Group, 2016)
    Somatic mutations are the driving force of cancer genome evolution. The rate of somatic mutations appears to be greatly variable across the genome due to variations in chromatin organization, DNA accessibility and replication ...
  • ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium; Demidov, German, 1990-; Drechsel, Oliver; Ossowski, Stephan; Estivill, Xavier, 1955-; Escaramís, Geòrgia; Bosio, Mattia; Holik, Aliaksei Z.; Sušak, Hana, 1985-; 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 ...
  • Leiserson, Mark D.M.; Vandin, Fabio; Wu, Hsin-Ta; Dobson, Jason R.; Eldridge, Jonathan V.; Thomas, Jacob L.; Papoutsaki, Alexandra; Kim, Younhun; Niu, Beifang; McLellan, Michael; Lawrence, Michael S.; Gonzalez-Perez, Abel; Tamborero Noguera, David; Cheng, Yuwei; Ryslik, Gregory A.; López Bigas, Núria; Getz, Gad; Ding, Li; Raphael, Benjamin J. (Nature Research, 2015)
    Cancers exhibit extensive mutational heterogeneity, and the resulting long-tail phenomenon complicates the discovery of genes and pathways that are significantly mutated in cancer. We perform a pan-cancer analysis of mutated ...
  • Creixell, Pau; Gonzalez-Perez, Abel; López Bigas, Núria; Mutation Consequences and Pathway Analysis Working Group of the International Cancer Genome Consortium (Nature Research, 2015)
    Genomic information on tumors from 50 cancer types cataloged by the International Cancer Genome Consortium (ICGC) shows that only a few well-studied driver genes are frequently mutated, in contrast to many infrequently ...
  • Frigola, Joan; Sabarinathan, Radhakrishnan; Mularoni, Loris; Muiños, Ferran; Gonzalez-Perez, Abel; López Bigas, Núria (Nature Publishing Group, 2017)
    While recent studies have identified higher than anticipated heterogeneity of mutation rate across genomic regions, mutations in exons and introns are assumed to be generated at the same rate. Here we find fewer somatic ...
  • Bailey, Matthew H.; Drechsel, Oliver; Gut, Ivo Glynne; Ossowski, Stephan; Stobbe, Miranda D.; Gonzalez-Perez, Abel; PCAWG Consortium (Nature Research, 2020)
    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 ...
  • Li, Constance H.; Stobbe, Miranda D.; Déu Pons, Jordi; Gonzalez-Perez, Abel; Muiños, Ferran; Mularoni, Loris; Pich Roselló, Oriol, 1992-; Rubio Pérez, Carlota, 1990-; Sabarinathan, Radhakrishnan; Tamborero Noguera, David; Heredia Genestar, José María, 1985-; Marquès i Bonet, Tomàs, 1975-; Navarro i Cuartiellas, Arcadi, 1969-; Bosio, Mattia; Demidov, German, 1990-; Drechsel, Oliver; Escaramís, Geòrgia; Estivill, Xavier, 1955-; Holik, Aliaksei Z.; Muyas Remolar, Francesc, 1992-; Ossowski, Stephan; Rabionet, Raquel; Sušak, Hana, 1985-; PCAWG Consortium (Nature Research, 2020)
    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 ...

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