Doctorat en Bioinformàtica
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Articles de revista [12]
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EpiGe: A machine-learning strategy for rapid classification of medulloblastoma using PCR-based methyl-genotyping
(Elsevier, 2023-09-15)
Article
Open AccessMolecular 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
(Elsevier, 2023-06-14)
Article
Open AccessMany 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
(Springer Nature, 2022-01-01)
Article
Open AccessMutations 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
(2022-10-15)
Article
Open AccessIn 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
(2021-05-19)
Article
Open AccessRhodopsin 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
(2021-02-16)
Article
Open AccessBackground: 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
(Springer Nature, 2021-09-13)
Article
Open AccessThe 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
(2019-05-30)
Research report
Open AccessIn 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
(2019-05-30)
Research report
Open AccessThis 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
(2019-05-30)
Research report
Open AccessThis 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
(Oxford University Press, 2020-12-29)
Article
Open AccessMotivation: 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
(2021-04-23)
Article
Open AccessGenome-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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