Browsing by Author "Fernández-Orth, Dietmar"

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  • A quality control portal for sequencing data deposited at the European genome-phenome archive
    Fernández-Orth, Dietmar; Rueda, Manuel; Singh, Babita, 1986-; Moldes, Mauricio; Jene, Aina; Ferri, Marta; Vasallo, Claudia; Fromont, Lauren A.; Navarro i Cuartiellas, Arcadi, 1969-; Rambla de Argila, Jordi (Oxford University Press, 2022)
    Since its launch in 2008, the European Genome-Phenome Archive (EGA) has been leading the archiving and distribution of human identifiable genomic data. In this regard, one of the community concerns is the potential usability ...
  • Circulating miRNAs, isomiRs and small RNA clusters in human plasma and breast milk
    Rubio Martínez, Mercedes, 1980-; Bustamante Pineda, Mariona; Hernandez-Ferrer, Carles, 1987-; Fernández-Orth, Dietmar; Pantano Rubiño, Lorena, 1982-; Sarria-Trujillo, Yaris; Piqué-Borras, Maria; Vellve del Amo, Kilian; Agramunt, Silvia; Carreras Collado, Ramón; Estivill, Xavier, 1955-; González Ruiz, Juan Ramón; Mayor, Alfredo (Public Library of Science (PLoS), 2018)
    Circulating small RNAs, including miRNAs but also isomiRs and other RNA species, have the potential to be used as non-invasive biomarkers for communicable and non-communicable diseases. This study aims to characterize and ...
  • NGS-based liquid biopsy profiling identifies mechanisms of resistance to ALK inhibitors: a step toward personalized NSCLC treatment
    Sánchez-Herrero, Estela; Serna-Blasco, Roberto; Ivanchuk, Vadym; García-Campelo, Rosario; Dómine Gómez, Manuel; Sánchez, José M.; Massutí, Bartomeu; Reguart, Noemí; Camps, Carlos; Sanz-Moreno, Sandra; Calabuig-Fariñas, Sílvia; Jantus-Lewintre, Eloisa; Arnal, Magdalena; Fernández-Orth, Dietmar; Calvo, Virginia; González-Rumayor, Víctor; Provencio, Mariano; Romero, Atocha (Wiley, 2021)
    Despite impressive and durable responses, nonsmall cell lung cancer (NSCLC) patients treated with anaplastic lymphoma kinase (ALK) inhibitors (ALK-Is) ultimately progress due to development of resistance. Here, we have ...
  • The European Genome-phenome Archive in 2021
    Freeberg, Mallory Ann; Fromont, Lauren A.; D'Altri, Teresa, 1984-; Jene, Aina; Moldes, Mauricio; Ariosa, Roberto; Fernández-Orth, Dietmar; Haziza, Frédéric; Martinez Llobet, Oscar; Milla, Gemma; Rueda, Manuel; Singh, Babita, 1986-; Torre, Sabela de la; Uyan, Umuthan; Vasallo, Claudia; Guigó Serra, Roderic; Navarro i Cuartiellas, Arcadi, 1969-; Rambla de Argila, Jordi (Oxford University Press, 2022)
    The European Genome-phenome Archive (EGA - https://ega-archive.org/) is a resource for long term secure archiving of all types of potentially identifiable genetic, phenotypic, and clinical data resulting from biomedical ...