Exploració per autor "Royo, Romina"Més informació

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    • 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)
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      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 ...

    • ATM germline variants in a young adult with chronic lymphocytic leukemia: 8 years of genomic evolution 

      Royo, Romina; Magnano, Laura; Delgado, Julio; Ruiz Gil, Sara; Gelpí, Josep Ll.; Heyn, Holger; Taylor, Malcom A.; Stankovic, Tatjana; Puente, Xose S.; Nadeu, Ferran; Campo, Elías (Springer Nature, 2022-06)
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    • ATM germline variants in a young adult with chronic lymphocytic leukemia: 8 years of genomic evolution 

      Royo, Romina; Magnano, Laura; Delgado, Julio; Ruiz Gil, Sara; Gelpi, Josep (Springer Nature, 2022)
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    • BCL3 rearrangements in B-cell lymphoid neoplasms occur in two breakpoint clusters associated with different diseases 

      Carbó Meix, Anna; Guijarro, Francesca; Wang, Luojun; Grau, Marta; Royo, Romina (Ferrata Storti Foundation, 2024-02)
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      The t(14;19)(q32;q13) often juxtaposes BCL3 with immunoglobulin heavy chain (IGH) resulting in overexpression of the gene. In contrast to other oncogenic translocations, BCL3 rearrangement (BCL3-R) has been associated with ...

    • Chronic lymphocytic leukemia patient-derived xenografts recapitulate clonal evolution to Richter transformation 

      Playa Albinyana, Heribert; Arenas, Fabian; Royo, Romina; Giró, Ariadna; López Oreja, Irene (Springer Nature, 2023-11)
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      Chronic lymphocytic leukemia (CLL) is a B-cell neoplasm with a heterogeneous clinical behavior. In 5–10% of patients the disease transforms into a diffuse large-B cell lymphoma known as Richter transformation (RT), which ...

    • Detection of early seeding of Richter transformation in chronic lymphocytic leukemia 

      Nadeu, Ferran; Royo, Romina; Massoni Badosa, Ramon; Playa Albinyana, Heribert; Garcia Torre, Beatriz; Dueso Barroso, Ana; Capella Gutiérrez, Salvador; Gelpi, Josep; Torrents, David (Nature Research, 2022)
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      Richter transformation (RT) is a paradigmatic evolution of chronic lymphocytic leukemia (CLL) into a very aggressive large B cell lymphoma conferring a dismal prognosis. The mechanisms driving RT remain largely unknown. ...

    • 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)
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      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)
      Report de recerca
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      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 Mercè, Jaime; Naro, Daniel; Llorente Viejo, Silvia; Gelpí, Josep Lluís; Royo, Romina (2018-04)
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      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, Jaime; Naro, Daniel; Llorente, Silvia; Gelpí, Josep Lluís; Royo, Romina (IOS Press, 2018)
      Capítol de llibre
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      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)
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    • 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)
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      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)
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      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 ...

    • Signatures of TOP1 transcription-associated mutagenesis in cancer and germline 

      Reijns, Martin A. M.; Parry, David A.; Williams, Thomas C.; Nadeu, Ferran; Hindshaw, Rebecca L.; Royo, Romina (Nature Research, 2022)
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      The mutational landscape is shaped by many processes. Genic regions are vulnerable to mutation but are preferentially protected by transcription-coupled repair1. In microorganisms, transcription has been demonstrated to ...

    • TIGER: The gene expression regulatory variation landscape of human pancreatic islets 

      Alonso, Lorena; Piron, Anthony; Morán, Ignasi; Guindo Martínez, Marta; Bonàs Guarch, Sílvia; Royo, Romina; Puiggròs, Montserrat; Amela, Ramon; Mercader, Josep M.; Torrents, David (Cell Press, 2021)
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      Genome-wide association studies (GWASs) identified hundreds of signals associated with type 2 diabetes (T2D). To gain insight into their underlying molecular mechanisms, we have created the translational human pancreatic ...