Browsing by Author "Trotta, Jean-Remi"

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  • Feliubadaló, Lídia; Tonda, Raúl; Trotta, Jean-Remi; Gut, Marta; Gut, Ivo Glynne; Beltran, Sergi; Lázaro García, Conxi (Nature Research, 2017)
    Next generation sequencing panels have been developed for hereditary cancer, although there is some debate about their cost-effectiveness compared to exome sequencing. The performance of two panels is compared to exome ...
  • 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 ...
  • Laurie, Steven, 1973-; Fernández Callejo, Marcos; Marco Sola, Santiago; Trotta, Jean-Remi; Camps-Puchadas, Jordi; Chacón, Alejandro; Espinosa, Antonio; Gut, Marta; Gut, Ivo Glynne; Heath, Simon; Beltran, Sergi (Wiley, 2016)
    As whole genome sequencing becomes cheaper and faster, it will progressively substitute targeted next-generation sequencing as standard practice in research and diagnostics. However, computing cost–performance ratio is not ...
  • Pearman, Peter B.; Alioto, Tyler; Trotta, Jean-Remi; Columbus, J. Travis (Wiley, 2021)
    The resolution of cryptic diversity is essential for understanding the evolutionary diversification of lineages and establishing conservation priorities. We examine relationships in Eriogoneae (Polygonaceae), a diverse ...
  • 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 ...
  • Villanueva-Mendoza, Cristina; Tusón, Miquel; Apam-Garduño, David; de Castro-Miró, Marta; Tonda, Raúl; Trotta, Jean-Remi; Marfany, Gemma; Valero, Rebeca; Cortés-González, Vianney; Gonzàlez-Duarte, Roser (MDPI, 2021)
    In this work, we aimed to provide the genetic diagnosis of a large cohort of patients affected with inherited retinal dystrophies (IRDs) from Mexico. Our data add valuable information to the genetic portrait in rare ocular ...
  • Laurie, Steven, 1973-; Piscia, Davide; Matalonga, Leslie; Corvò, Alberto; Fernández Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles, 1987-; Luengo, Cristina; Martínez, Inés; Papakonstantinou Ntalis, Anastasios; Picó-Amador, Daniel; Protasio, Joan; Tonda, Raúl; Bayés, Mònica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Remi; Pérez Jurado, Luis Alberto; Rambla de Argila, Jordi; Gut, Ivo Glynne; Lochmüller, Hanns; Beltran, Sergi (Wiley, 2022)
    Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, ...
  • Vidal, Silvia; Brandi, Núria; Pacheco, Paola; Gerotina, Edgar; Blasco, Laura; Trotta, Jean-Remi; Derdak, Sophia; del Mar O'Callaghan, María; García Cazorla, Àngels; Pineda, Mercè; Armstrong, Judith; Rett Working Group (Nature Publishing Group, 2017)
    Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology ...

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