Now showing items 1-12 of 12

    • A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration 

      Ehrhart, Friederike; Jacobsen, Annika; Rigau, Maria; Bosio, Mattia; Kaliyaperumal, Rajaram; Laros, Jeroen F. J.; Willighagen, Egon L.; Valencia, Alfonso; Roos, Marco; Capella Gutiérrez, Salvador; Curfs, Leopold M. G.; Evelo, Chris T. (Springer Nature, 2021)
      Article
      Open Access
      Rett syndrome (RTT) is a rare neurological disorder mostly caused by a genetic variation in MECP2. Making new MECP2 variants and the related phenotypes available provides data for better understanding of disease mechanisms ...
    • Differential expression of long non-coding RNAs are related to proliferation and histological diversity in follicular lymphomas 

      Roisman, Alejandro; Castellano, Giancarlo; Navarro López, Alba; Bosio, Mattia; Bellot Pujalte, Pau; Salembier Clairon, Philippe Jean; Oliveras Vergés, Albert (2018-01-01)
      Article
      Open Access
      Long non-coding RNAs (lncRNAs) comprise a family of non-coding transcripts that are emerging as relevant gene expression regulators of different processes, including tumour development. To determine the possible contribution ...
    • Ensemble learning and hierarchical data representation for microarray classification 

      Bosio, Mattia; Bellot Pujalte, Pau; Salembier Clairon, Philippe Jean; Oliveras Vergés, Albert (Institute of Electrical and Electronics Engineers (IEEE), 2013)
      Conference report
      Restricted access - publisher's policy
      The microarray data classification is an open and active research field. The development of more accurate algorithms is of great interest and many of the developed techniques can be straightforwardly applied in analyzing ...
    • Examen Final 

      Bellot Pujalte, Pau; Bosio, Mattia; Hernando, J.; Casas Pla, Josep Ramon; Salembier Clairon, Philippe Jean; Monte Moreno, Enrique; Mariño Acebal, José Bernardo (Universitat Politècnica de Catalunya, 2013-06-25)
      Exam
      Restricted access to the UPC academic community
    • Feature set enhancement via hierarchical clustering for microarray classification 

      Bosio, Mattia; Bellot Pujalte, Pau; Salembier Clairon, Philippe Jean; Oliveras Vergés, Albert (2011)
      Conference report
      Restricted access - publisher's policy
      A new method for gene expression classification is proposed in this paper. In a first step, the original feature set is enriched by including new features, called metagenes, produced via hierarchical clustering. In a ...
    • Gene expression data classification combining hierarchical representation and efficient feature selection 

      Bosio, Mattia; Bellot Pujalte, Pau; Salembier Clairon, Philippe Jean; Oliveras Vergés, Albert (2012-12)
      Article
      Restricted access - publisher's policy
      A general framework for microarray data classification is proposed in this paper. It pro- duces precise and reliable classifiers through a two-step approach. At first, the original feature set is enhanced by a new set ...
    • Hierarchical clustering combining numerical and biological similarities for gene expression data classification 

      Bosio, Mattia; Salembier Clairon, Philippe Jean; Bellot Pujalte, Pau; Oliveras Vergés, Albert (Institute of Electrical and Electronics Engineers (IEEE), 2013)
      Conference report
      Restricted access - publisher's policy
      High throughput data analysis is a challenging problem due to the vast amount of available data. A major concern is to develop algorithms that provide accurate numerical predictions and biologically relevant results. A ...
    • Hierarchical information representation and efficient classification of gene expression microarray data 

      Bosio, Mattia (Universitat Politècnica de Catalunya, 2014-06-27)
      Doctoral thesis
      Open Access
      In the field of computational biology, microarryas are used to measure the activity of thousands of genes at once and create a global picture of cellular function. Microarrays allow scientists to analyze expression of many ...
    • Microarray classification with hierarchical data representation and novel feature selection criteria 

      Bosio, Mattia; Bellot Pujalte, Pau; Salembier Clairon, Philippe Jean; Oliveras Vergés, Albert (Institute of Electrical and Electronics Engineers (IEEE), 2012)
      Conference report
      Restricted access - publisher's policy
      Microarray data classification is a challenging prob- lem due to the high number of variables compared to the small number of available samples. An effective methodology to output a precise and reliable classifier is ...
    • Multiclass cancer-microarray classification algorithm with Pair-Against-All redundancy 

      Bosio, Mattia; Bellot Pujalte, Pau; Salembier Clairon, Philippe Jean; Oliveras Vergés, Albert (2012)
      Conference report
      Restricted access - publisher's policy
      Multiclass cancer classification is still a challenging task in the field of machine learning. A novel multiclass approach is proposed in this work as a combination of multiple binary classifiers. It is an example of Error ...
    • Predicción de mortalidad en recién nacidos prematuros. Revisión sistemática actualizada 

      Río, Ruth del; Thió, Marta; Bosio, Mattia; Figueras, Josep; Iriondo, Martín (Elsevier, 2020-07)
      Article
      Open Access
      Introducción La prematuridad extrema se asocia a altas tasas de mortalidad. Para profesionales y familias, es prioritario establecer de forma individualizada las probabilidades de muerte en diferentes momentos. El objetivo ...
    • Tracking of antibiotic resistance transfer and rapid plasmid evolution in a hospital setting by Nanopore sequencing 

      Peter, Silke; Bosio, Mattia; Gross, Caspar; Bezdan, Daniela; Gutierrez, Javier; Oberhettinger, Philipp; Liese, Jan; Vogel, Wichard; Dörfel, Daniela; Berger, Lennard; Marschal, Matthias; Willmann, Matthias; Gut, Ivo; Gut, Marta; Autenrieth, Ingo; Ossowski, Stephan (American Society for Microbiology, 2020)
      Article
      Open Access
      Infections with multidrug-resistant bacteria often leave limited or no treatment options. The transfer of antimicrobial resistance genes (ARG) carrying plasmids between bacterial species by horizontal gene transfer represents ...