Browsing by Author "Muyas Remolar, Francesc, 1992-"

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  • Sušak, Hana, 1985-; Serra Saurina, Laura; Demidov, German, 1990-; Rabionet, Raquel; Domènech Salgado, Laura, 1989-; Bosio, Mattia; Muyas Remolar, Francesc, 1992-; Estivill, Xavier, 1955-; Escaramís, Geòrgia; Ossowski, Stephan (Public Library of Science (PLoS), 2021)
    Rare variants are thought to play an important role in the etiology of complex diseases and may explain a significant fraction of the missing heritability in genetic disease studies. Next-generation sequencing facilitates ...
  • Muyas Remolar, Francesc, 1992- (Universitat Pompeu Fabra, 2019-12-20)
    The rapid development of high-throughput sequencing technologies pushed forward the fields of medical genomics and precision medicine, creating many new applications for diagnostics and clinical studies that require high ...
  • ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium; Demidov, German; 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 ...
  • Pogoda, Michaela; Hilke, Franz-Joachim; Lohmann, Ebba; Sturm, Marc; Lenz, Florian; Matthes, Jakob; Muyas Remolar, Francesc, 1992-; Ossowski, Stephan; Hoischen, Alexander; Faust, Ulrike; Sepahi, Ilnaz; Casadei, Nicolas; Poths, Sven; Riess, Olaf; Schroeder, Christopher; Grundmann, Kathrin (Frontiers, 2019)
    Background: This study's aim was to investigate a large cohort of dystonia patients for pathogenic and rare variants in the ATM gene, making use of a new, cost-efficient enrichment technology for NGS-based screening. ...
  • Muyas Remolar, Francesc, 1992-; Zapata Ortiz, Luis, 1985-; Guigó Serra, Roderic; Ossowski, Stephan (BioMed Central, 2020)
    Background: Mosaic mutations acquired during early embryogenesis can lead to severe early-onset genetic disorders and cancer predisposition, but are often undetectable in blood samples. The rate and mutational spectrum of ...