Now showing items 1-8 of 8

    • A practical guide for mutational signature analysis in hematological malignancies 

      Maura, Francesco; Degasperi, Andrea; Nadeu, Ferran; Leongamornlert, Daniel; Davies, Helen; Moore, Luiza; Royo, Romina; Ziccheddu, Bachisio; Puente, Xose S.; Avet-Loiseau, Herve; Cambell, Peter J.; Nik-Zainal, Serena; Campo, Elias; Munshi, Nikhil; Bolli, Niccolò (Nature Research, 2019)
      Article
      Open Access
      Analysis of mutational signatures is becoming routine in cancer genomics, with implications for pathogenesis, classification, prognosis, and even treatment decisions. However, the field lacks a consensus on analysis and ...
    • IgCaller for reconstructing immunoglobulin gene rearrangements and oncogenic translocations from whole-genome sequencing in lymphoid neoplasms 

      Nadeu, Ferran; Mas-de-les-Valls, Rut; Navarro, Alba; Royo, Romina; Martín, Silvia; Villamor, Neus; Suárez-Cisneros, Helena; Mares, Rosó; Lu, Junyan; Enjuanes, Anna; Rivas-Delgado, Alfredo; Aymerich, Marta; Baumann, Tycho; Colomer, Dolors; Delgado, Julio; Morin, Ryan D.; Zenz, Thorsten; Puente, Xose S.; Campbell, Peter J.; Beà, Sílvia; Maura, Francesco; Campo, Elías (Springer Nature, 2020-07)
      Article
      Open Access
      Immunoglobulin (Ig) gene rearrangements and oncogenic translocations are routinely assessed during the characterization of B cell neoplasms and stratification of patients with distinct clinical and biological features, ...
    • jmpegg 1.0 – the pure java implementation of the MPEG-G ISO/IEC 23092 standard 

      Repchevsky, Dmitry; Naro, Daniel; Royo, Romina; Llorente Viejo, Silvia; Delgado Mercè, Jaime; Gelpi, Josep Lluis (2019-07-14)
      External research report
      Open Access
      High-throughput sequencing technologies consistently produce overwhelming amount of genomic data. This data is extremely important for the biomedical research and has an enormous impact on the progress in healthcare system. ...
    • Metadata to Describe Genomic Information 

      Delgado, Jaime; Naro, Daniel; Llorente, Silvia; Gelpí, Josep Lluís; Royo, Romina (IOS Press, 2018)
      Part of book or chapter of book
      Open Access
      Interoperable metadata is key for the management of genomic information. We propose a flexible approach that we contribute to the standardization by ISO/IEC of a new format for efficient and secure compressed storage and ...
    • Metadata to describe genomic information 

      Delgado Mercè, Jaime; Naro, Daniel; Llorente Viejo, Silvia; Gelpí, Josep Lluís; Royo, Romina (2018-04)
      Article
      Open Access
      Interoperable metadata is key for the management of genomic information. We propose a flexible approach that we contribute to the standardization by ISO/IEC of a new format for efficient and secure compressed storage and ...
    • Minimal spatial heterogeneity in chronic lymphocytic leukemia at diagnosis 

      Nadeu, Ferran; Royo, Romina; Maura, Francesco; Dawson, Kevin J; Dueso Barroso, Ana; Aymerich, Marta; Pinyol, Magda; Beà, Sílvia; López Guillermo, Armando; Delgado, Julio; Puente, Xosé S.; Campo, Elías (Springer Nature, 2020)
      Article
      Open Access
    • Nucleosome Dynamics: a new tool for the dynamic analysis of nucleosome positioning 

      Diana, Buitrago; Codó, Laia; Illa, Ricard; Jorge, Pau de; Battistini, Federica; Flores, Oscar; Bayarri, Genis; Royo, Romina; Pino, Marc del; Heath, Simon; Hospital, Adam; Gelpí, Josep Lluís; Heath, Isabelle Brun; Orozco, Modesto (Oxford University Press (OUP), 2019-10-10)
      Article
      Open Access
      We present Nucleosome Dynamics, a suite of programs integrated into a virtual research environment and created to define nucleosome architecture and dynamics from noisy experimental data. The package allows both the ...
    • Pan-cancer analysis of whole genomes 

      The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium; Royo, Romina; Vazquez, Miguel; Bosio, Mattia; Valencia, Alfonso; Torrents, David; Gelpi, Josep; Milovanovic, Ana; Puiggròs, Montserrat; Bartolome, Javier; Vicente, David; Fink, J. Lynn; Dueso Barroso, Ana; Villasante, Izar; Bartolomé Rodriguez, Javier (Nature Research, 2020)
      Article
      Open Access
      Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1,2,3. Here we report the integrative analysis of 2,658 ...