Ara es mostren els items 1-20 de 27

    • A first update on mapping the human genetic architecture of COVID-19 

      COVID-19 Host Genetics Initiative (Nature Research, 2022-08)
      Article
      Accés obert
      The COVID-19 pandemic continues to pose a major public health threat, especially in countries with low vaccination rates. To better understand the biological underpinnings of SARS-CoV-2 infection and COVID-19 severity, we ...
    • Accelerating K-mer Frequency Counting with GPU and Non-Volatile Memory 

      Cadenelli, Nicola; Polo Bardés, Jordà; Carrera, David (IEEE, 2018-02-15)
      Comunicació de congrés
      Accés obert
      The emergence of Next Generation Sequencing (NGS) platforms has increased the throughput of genomic sequencing and in turn the amount of data that needs to be processed, requiring highly efficient computation for its ...
    • Automatic identification of informative regions with epigenomic changes associated to hematopoiesis 

      Carrillo-de-Santa-Pau, Enrique; Juan, David; Pancaldi, Vera; Were, Felipe; Martin-Subero, Ignacio; Rico, Daniel; Valencia, Alfonso (Oxford University Press, 2017-09-19)
      Article
      Accés obert
      Hematopoiesis is one of the best characterized biological systems but the connection between chromatin changes and lineage differentiation is not yet well understood. We have developed a bioinformatic workflow to generate ...
    • Big data analytics for obesity prediction 

      Bilal, Hasan; Vellido Alcacena, Alfredo; Ribas Ripoll, Vicent (IOS Press, 2018)
      Capítol de llibre
      Accés obert
      Feature selection (FS) is essential for the analysis of genomic datasets with millions of features. In such context, Big Data tools are paramount, but the use of standard machine learning models is limited for data with ...
    • Evolving protein interaction networks through gene duplication 

      Pastor Satorras, Romualdo; Smith, E; Solé, Ricard Vicenç (2003-05-21)
      Article
      Accés obert
      The topology of the proteome map revealed by recent large-scale hybridization methods has shown that the distribution of protein–protein interactions is highly heterogeneous, with many proteins having few edges while a few ...
    • Gelada vocal sequences follow Menzerath's linguistic law 

      Gustison, Morgan; Semple, Stuart; Ferrer Cancho, Ramon; Bergman, Thore (2016-03-04)
      Article
      Accés obert
      Identifying universal principles underpinning diverse natural systems is a key goal of the life sciences. A powerful approach in addressing this goal has been to test whether patterns consistent with linguistic laws are ...
    • Generative moment matching networks for genotype simulation 

      Perera, M.; Mas Montserrat, Daniel; Barrabés Torrella, Míriam; Geleta Geleta, Margarita; Giró Nieto, Xavier; Ioannidis, Alexander (2022)
      Text en actes de congrés
      Accés restringit per política de l'editorial
      The generation of synthetic genomic sequences using neural networks has potential to ameliorate privacy and data sharing concerns and to mitigate potential bias within datasets due to under-representation of some population ...
    • Genome Assemblies of Two Rare Opportunistic Yeast Pathogens: Diutina rugosa (syn. Candida rugosa) and Trichomonascus ciferrii (syn. Candida ciferrii) 

      Mixão, Verónica; Saus, Ester; Perez Hansen, Antonio; Lass Florl, Cornelia; Gabaldon, Toni (Genetics Society of America (GSA), 2019)
      Article
      Accés obert
      Infections caused by opportunistic yeast pathogens have increased over the last years. These infections can be originated by a large number of diverse yeast species of varying incidence, and with distinct clinically relevant ...
    • High evolutionary turnover of satellite families in Caenorhabditis 

      Subirana Torrent, Juan A.; Albà, M. Mar; Messeguer Peypoch, Xavier (2015-10-05)
      Article
      Accés obert
      Background: The high density of tandem repeat sequences (satellites) in nematode genomes and the availability of genome sequences from several species in the group offer a unique opportunity to better understand the ...
    • Histogram based Hierarchical Data Representation for Microarray Classification 

      Kottath, Sandeep (Universitat Politècnica de Catalunya, 2012-09-03)
      Projecte Final de Màster Oficial
      Accés obert
      [ANGLÈS] A general framework for microarray classification relying on histogram based hierarchical clustering is proposed in this work. It produces precise and reliable classifiers based on a two-step approach. In the first ...
    • How long are long tandem repeats? A challenge for current methods of whole-genome sequence assembly: The case of satellites in caenorhabditis elegans 

      Subirana Torrent, Juan A.; Messeguer Peypoch, Xavier (2018-10-16)
      Article
      Accés obert
      Repetitive genome regions have been difficult to sequence, mainly because of the comparatively small size of the fragments used in assembly. Satellites or tandem repeats are very abundant in nematodes and offer an excellent ...
    • Metadata to Describe Genomic Information 

      Delgado, Jaime; Naro, Daniel; Llorente, Silvia; Gelpí, Josep Lluís; Royo, Romina (IOS Press, 2018)
      Capítol de llibre
      Accés obert
      Interoperable metadata is key for the management of genomic information. We propose a flexible approach that we contribute to the standardization by ISO/IEC of a new format for efficient and secure compressed storage and ...
    • Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort 

      Galván Femenía, Iván; Obón-Santacana, Mireia; Piñeyro, David; Guindo-Martinez, Marta; Duran, Xavier; Carreras, Anna; Pluvinet, Raquel; Velasco, Juan; Ramos, Laia; Aussó, Susanna; Puig, Lluis; Perucho, Manuel; Torrents, David; Moreno, Victor; Sumoy, Lauro; de Cid, Rafael (BMJ Publishing Group, 2018-08-30)
      Article
      Accés obert
      Background Heritability estimates have revealed an important contribution of SNP variants for most common traits; however, SNP analysis by single-trait genome-wide association studies (GWAS) has failed to uncover their ...
    • Mutations suppressing the lack of prepilin peptidase provide insights into the maturation of the major Pilin Protein in Cyanobacteria 

      Linhartová, Markéta; Skotnicová, Petra; Hakkila, Kaisa; Tichý, Martin; Komenda, Josef; Knoppová, Jana; Gilabert, Joan F.; Guallar, Victor; Tyystjärvi, Taina; Sobotka, Roman (Frontiers Media, 2021)
      Article
      Accés obert
      Type IV pili are bacterial surface-exposed filaments that are built up by small monomers called pilin proteins. Pilins are synthesized as longer precursors (prepilins), the N-terminal signal peptide of which must be removed ...
    • Next generation sequencing to dissect the genetic architecture of KNG1 and F11 loci using factor XI levels as an intermediate phenotype of thrombosis 

      Martin-Fernandez, Laura; Gavidia Bovadilla, Giovana Elizabeth; Corrales, Irene; Brunel, Helena; Ramirez, Lorena; Lopez Esteban, Sonia; Carlos Souto, Juan; Vidal, Francisco; Soria, José Manuel (2017-04-26)
      Article
      Accés obert
      Venous thromboembolism is a complex disease with a high heritability. There are significant associations among Factor XI (FXI) levels and SNPs in the KNG1 and F11 loci. Our aim was to identify the genetic variation of KNG1 ...
    • Predicting dog phenotypes from genotypes 

      Bartusiak, Emily R.; Barrabés Torrella, Míriam; Rymbekova, Aigerim; Gimbernat Mayol, Julia; López, Cayetana; Barberis, Lorenzo; Mas Montserrat, Daniel; Giró Nieto, Xavier; Ioannidis, Alexander (2022)
      Text en actes de congrés
      Accés restringit per política de l'editorial
      We analyze dog genotypes (i.e., positions of dog DNA sequences that often vary between different dogs) in order to predict the corresponding phenotypes (i.e., unique observed characteristics). More specifically, given ...
    • Un prototipo de codificador MPEG-G 

      Iqbal, Omair (Universitat Politécnica de Catalunya / Universitat Politècnica de Catalunya, 2018-06)
      Treball Final de Grau
      Accés obert
      El objetivo de este proyecto es implementar una primera versión de estándar de datos MPEG-G para uso interno de la Universidad Universidad Politécnica de Cataluña (UPC) y proponer mejoras para el desarrollo futuro.
    • Random models of Menzerath-Altmann law in genomes 

      Baixeries i Juvillà, Jaume; Hernández Fernández, Antonio; Ferrer Cancho, Ramon (2012-03)
      Article
      Accés obert
      Recently, a random breakage model has been proposed to explain the negative correlation between mean chromosome length and chromosome number that is found in many groups of species and is consistent with Menzerath–Altmann ...
    • Signatures of TOP1 transcription-associated mutagenesis in cancer and germline 

      Reijns, Martin A. M.; Parry, David A.; Williams, Thomas C.; Nadeu, Ferran; Hindshaw, Rebecca L.; Royo, Romina (Nature Research, 2022)
      Article
      Accés obert
      The mutational landscape is shaped by many processes. Genic regions are vulnerable to mutation but are preferentially protected by transcription-coupled repair1. In microorganisms, transcription has been demonstrated to ...
    • Study of digital signal processing tools to infer gene regulatory networks from microarrays 

      Bellot Pujalte, Pau (Universitat Politècnica de Catalunya, 2012-09-07)
      Projecte Final de Màster Oficial
      Accés obert
      [ANGLÈS] Since the mid-1990's, the field of genomic signal processing has exploded due to the development of DNA microarray technology, which made possible the measurement of mRNA expression of thousands of genes in parallel. ...