Recent Submissions

  • EpiGe: A machine-learning strategy for rapid classification of medulloblastoma using PCR-based methyl-genotyping 

    Gómez González, Soledad; Llano Viles, Joshua; García López, Marta; Garrido Garcia, Alicia; Suñol Capella, Mariona; Lemos, Isadora; Perez Jaume, Sara; Salvador Marcos, Noelia; Gene Olaciregui, Nagore; Arnau Galán, Raquel; Santa María López, Vicente; Perez Somarriba, Marta; Perera Lluna, Alexandre; Mora Graupera, Jaume; Lavarino, Cinzia; Morales, Andrés (Elsevier, 2023-09-15)
    Article
    Open Access
    Molecular classification of medulloblastoma is critical for the treatment of this brain tumor. Array-based DNA methylation profiling has emerged as a powerful approach for brain tumor classification. However, this technology ...
  • Home monitoring for older singles: A gas sensor array system 

    Marín López, Daniel; Llano Viles, Joshua; Haddi, Zouhair; Perera Lluna, Alexandre; Fonollosa Magrinyà, Jordi (Elsevier, 2023-06-14)
    Article
    Open Access
    Many residential environments have been equipped with sensing technologies both to provide assistance to older people who have opted for aging-in-place and to provide information to caregivers and family. However, such ...
  • New insights into the molecular mechanism of rhodopsin retinitis pigmentosa from the biochemical and functional characterization of G90V, Y102H and I307N mutations 

    Herrera Hernández, María Guadalupe; Razzaghi, Neda; Fernández González, Pol; Bosch Presegue, Laia; Vila i Julià, Guillem; Pérez González, Juan Jesús; Garriga Solé, Pere (Springer Nature, 2022-01-01)
    Article
    Open Access
    Mutations in the photoreceptor protein rhodopsin are known as one of the leading causes of retinal degeneration in humans. Two rhodopsin mutations, Y102H and I307N, obtained in chemically mutagenized mice, are currently ...
  • Mapping layperson medical terminology into the Human Phenotype Ontology using neural machine translation models 

    Manzini, Enrico; Garrido de Aguirre, Jon; Fonollosa Magrinyà, Jordi; Perera Lluna, Alexandre (2022-10-15)
    Article
    Open Access
    In the medical domain there exists a terminological gap between patients and caregivers and the healthcare professionals. This gap may hinder the success of the communication between healthcare consumers and professionals ...
  • Effect of sodium valproate on the conformational stability of the visual G Protein-coupled receptor rhodopsin 

    Razzaghi, Neda; Fernández González, Pol; Mas Sánchez, Aina; Vila i Julià, Guillem; Pérez González, Juan Jesús; Garriga Solé, Pere (2021-05-19)
    Article
    Open Access
    Rhodopsin is the G protein-coupled receptor of rod photoreceptor cells that mediates vertebrate vision at low light intensities. Mutations in rhodopsin cause inherited retinal degenerative diseases such as retinitis ...
  • Lower Locus Coeruleus MRI intensity in patients with late-life major depression 

    Guinea Izquierdo, Andrés; Giménez Navarro, Mónica; Martínez Zalacaín, Ignacio; Cerro San Ildefonso, Inés del; Canal Noguer, Pol; Blasco, Gerard; Soriano Mas, Carles; Gascón Gutiérrez, Jordi; Reñé Ramírez, Ramon; Rico Pons, Immaculada; Camins Simó, Àngel; Aguilera Grijalvo, Carlos (2021-02-16)
    Article
    Open Access
    Background: The locus coeruleus (LC) is the major noradrenergic source in the central nervous system. Structural alterations in the LC contribute to the pathophysiology of different neuropsychiatric disorders, which may ...
  • A parallel dynamic asynchronous framework for uncertainty quantification by hierarchical Monte Carlo algorithms 

    Tosi, Riccardo; Amela Milian, Ramon; Badia Sala, Rosa Maria; Rossi, Riccardo (Springer Nature, 2021-09-13)
    Article
    Open Access
    The necessity of dealing with uncertainties is growing in many different fields of science and engineering. Due to the constant development of computational capabilities, current solvers must satisfy both statistical ...
  • ExaQUte: D5.2 Release of ExaQUte MLMC Python engine 

    Amela Milian, Ramon; Ayoul-Guilmard, Quentin; Ganesh, Sundar; Tosi, Riccardo; Badia Sala, Rosa Maria; Nobile, Fabio; Rossi, Riccardo (2019-05-30)
    Research report
    Open Access
    In this deliverable, the ExaQUte xmc library is introduced. This report is meant to serve as a supplement to the publicly release of the library. In the following sections, the ExaQUte xmc library is described along with ...
  • ExaQUte: D1.2 First release of the softwares 

    Tosi, Riccardo; Amela Milian, Ramon; Núñez Corbacho, Marc; Roig Pina, Carlos Alejandro; Badia Sala, Rosa Maria; Rossi, Riccardo (2019-05-30)
    Research report
    Open Access
    This deliverable presents the software release of the Kratos Multiphysics software [3], ”a framework for building parallel, multi-disciplinary simulation software, aiming at modularity, extensibility, and high performance. ...
  • ExaQUte: D4.2 Profiling report of the partner’s tools, complete with performance suggestions 

    Amela Milian, Ramon; Badia Sala, Rosa Maria; Böhm, Stanislav; Tosi, Riccardo; Rossi, Riccardo (2019-05-30)
    Research report
    Open Access
    This deliverable focuses on the proling activities developed in the project with the partner's applications. To perform this proling activities, a couple of benchmarks were dened in collaboration with WP5. The rst benchmark ...
  • Probabilistic graphlets capture biological function in probabilistic molecular networks 

    Doria Belenguer, Sergio; Youssef, Markus Kirolos; Böttcher, René; Malod-Dognin, Noël; Pržulj, Nataša (Oxford University Press, 2020-12-29)
    Article
    Open Access
    Motivation: Molecular interactions have been successfully modeled and analyzed as networks, where nodes represent molecules and edges represent the interactions between them. These networks revealed that molecules with ...
  • The impact of non-additive genetic associations on age-related complex diseases 

    Guindo Martínez, Marta; Amela Milian, Ramon; Bonàs Guarch, Silvia; Puiggros Maldonado, Montserrat; Salvoro, Cecilia; Miguel Escalada, Irene; Sánchez Castaño, Friman; Ramón Cortés, Cristian; Badia Sala, Rosa Maria; Ejarque Artigas, Jorge; Mercader Bigas, Josep Maria; Torrents Rodas, David (2021-04-23)
    Article
    Open Access
    Genome-wide association studies (GWAS) are not fully comprehensive, as current strategies typically test only the additive model, exclude the X chromosome, and use only one reference panel for genotype imputation. We ...

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