Browsing by Author "Borsari, Beatrice, 1992-"

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  • CTCF is dispensable for immune cell transdifferentiation but facilitates an acute inflammatory response
    Stik, Grégoire; Vidal, Enrique; Barrero, Mercedes; Cuartero, Sergi; Vila-Casadesús, Maria; Mendieta Esteban, Julen, 1992-; Tian, Tian V.; Choi, Jinmi; Berenguer, Clara; Abad, Amaya; Borsari, Beatrice, 1992-; Le Dily, François; Cramer, Patrick; Martí Renom, Marc A.; Stadhouders, Ralph; Graf, T. (Thomas) (Nature Research, 2020)
    Three-dimensional organization of the genome is important for transcriptional regulation1-7. In mammals, CTCF and the cohesin complex create submegabase structures with elevated internal chromatin contact frequencies, ...
  • Enhancers with tissue-specific activity are enriched in intronic regions
    Borsari, Beatrice, 1992-; Villegas Mirón, Pablo; Pérez-Lluch, Sílvia; Turpin, Isabel; Laayouni, Hafid, 1968-; Segarra Casas, Alba; Bertranpetit, Jaume, 1952-; Guigó Serra, Roderic; Acosta, Sandra (Cold Spring Harbor Laboratory Press (CSHL Press), 2021)
    Tissue function and homeostasis reflect the gene expression signature by which the combination of ubiquitous and tissue-specific genes contribute to the tissue maintenance and stimuli-responsive function. Enhancers are ...
  • Epigenetic regulation of the transcriptome
    Borsari, Beatrice, 1992- (2021-04-16)
    We have monitored the transcriptome and the epigenome of human pre-B cells transdifferentiating into macrophages. Analysis of these data provides a general framework to understand the relationship between gene expression ...
  • Functional annotation of human long noncoding RNAs via molecular phenotyping
    Ramilowski, Jordan A.; Borsari, Beatrice, 1992-; Garrido Martín, Diego, 1992-; Muñoz-Aguirre, Manuel; Nurtdinov, Ramil; Guigó Serra, Roderic; Carninci, Piero (Cold Spring Harbor Laboratory Press (CSHL Press), 2020)
    Long noncoding RNAs (lncRNAs) constitute the majority of transcripts in the mammalian genomes, and yet, their functions remain largely unknown. As part of the FANTOM6 project, we systematically knocked down the expression ...
  • Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome
    Garrido Martín, Diego, 1992-; Borsari, Beatrice, 1992-; Calvo, Miquel (Calvo Llorca); Reverter, Ferran; Guigó Serra, Roderic (Nature Research, 2021)
    Alternative splicing (AS) is a fundamental step in eukaryotic mRNA biogenesis. Here, we develop an efficient and reproducible pipeline for the discovery of genetic variants that affect AS (splicing QTLs, sQTLs). We use it ...
  • Integrative transcriptomic analysis suggests new autoregulatory splicing events coupled with nonsense-mediated mRNA decay
    Pervouchine, Dmitri D.; Popov, Yaroslav; Berry, Andy; Borsari, Beatrice, 1992-; Frankish, Adam; Guigó Serra, Roderic (Oxford University Press, 2019)
    Nonsense-mediated decay (NMD) is a eukaryotic mRNA surveillance system that selectively degrades transcripts with premature termination codons (PTC). Many RNA-binding proteins (RBP) regulate their expression levels by a ...
  • The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models
    Rozowsky, Joel; Borsari, Beatrice, 1992-; Guigó Serra, Roderic; Gerstein, Mark B. (Elsevier, 2023)
    Understanding how genetic variants impact molecular phenotypes is a key goal of functional genomics, currently hindered by reliance on a single haploid reference genome. Here, we present the EN-TEx resource of 1,635 ...