Visualitza per autoria "Stobbe, Miranda D."

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  • A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns
    Jiao, Wei; Atwal, Gurnit; Polak, Paz; Karlic, Rosa; Cuppen, Edwin; PCAWG Tumor Subtypes and Clinical Translation Working Group; Danyi, Alexandra; Ridder, Jeroen de; van Herpen, Carla; Lolkema, Martijn P.; Steeghs, Neeltje; Getz, Gad; Morris, Quaid; Stein, Lincoln D.; PCAWG Consortium; Stobbe, Miranda D. (Nature Research, 2020)
    In cancer, the primary tumour's organ of origin and histopathology are the strongest determinants of its clinical behaviour, but in 3% of cases a patient presents with a metastatic tumour and no obvious primary. Here, as ...
  • Framework for quality assessment of whole genome cancer sequences
    Whalley, Justin P.; Stobbe, Miranda D.; Beltran, Sergi; Gut, Marta; Trotta, Jean-Remi; Gut, Ivo Glynne (Nature Research, 2020)
    Bringing together cancer genomes from different projects increases power and allows the investigation of pan-cancer, molecular mechanisms. However, working with whole genomes sequenced over several years in different ...
  • Pan-cancer analysis of whole genomes
    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 ...
  • Recurrent somatic mutations reveal new insights into consequences of mutagenic processes in cancer
    Stobbe, Miranda D.; Thun, Gian Andri; Diéguez Docampo, Andrea; Oliva, Meritxell; Whalley, Justin P.; Raineri, Emanuele; Gut, Ivo Glynne (Public Library of Science (PLoS), 2019)
    The sheer size of the human genome makes it improbable that identical somatic mutations at the exact same position are observed in multiple tumours solely by chance. The scarcity of cancer driver mutations also precludes ...
  • Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
    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 ...
  • Sex differences in oncogenic mutational processes
    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 ...
  • Ten simple rules for a successful international consortium in big data omics
    Stobbe, Miranda D.; González-Pérez, Abel; López Bigas, Núria; Gut, Ivo Glynne (Public Library of Science (PLoS), 2022)

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