Browsing by Author "Gelpí, Josep Lluís"

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  • ATM germline variants in a young adult with chronic lymphocytic leukemia: 8 years of genomic evolution
    Royo, Romina; Magnano, Laura; Delgado González, Julio; Ruiz Gil, Sara; Gelpí, Josep Lluís; Heyn, Holger; Taylor, Malcom A.; Stankovic, Tatjana; Puente, Xosé S.; Nadeu, Ferran; Campo, Elias (Nature Research, 2022)
  • Genome-wide pathway analysis identifies genetic pathways associated with psoriasis
    Aterido Ballonga, Adrià, 1990-; Julià, Antonio; Ferrándiz, Carlos; Puig, Lluís; Fonseca, Eduardo; Fernández-López, Emilia; Dauden, Esteban; Sánchez-Carazo, José Luís; López-Estebaranz, José Luís; Moreno-Ramírez, David; Vanaclocha, Francisco; Herrera, Enrique; Cueva, Pablo de la; Dand, Nick; Palau, Núria; Alonso, Arnald; López-Lasanta, María; Tortosa, Raül; García-Montero, Andrés; Codó, Laia; Gelpí, Josep Lluís; Bertranpetit, Jaume, 1952-; Absher, Devin; Capon, Francesca; Myers, Richard M.; Barker, Jonathan N.; Marsal, Sara (Elsevier, 2016)
    Psoriasis is a chronic inflammatory disease with a complex genetic architecture. To date, the psoriasis heritability is only partially explained. However, there is increasing evidence that the missing heritability in ...
  • Nucleosome Dynamics: a new tool for the dynamic analysis of nucleosome positioning
    Buitrago, Diana; Codó, Laia; Illa, Ricard; Jorge, Pau de; Battistini, Federica; Flores, Oscar; Bayarri, Genis; Royo, Romina; Pino, Marc del; Heath, Simon; Hospital, Adam; Gelpí, Josep Lluís; Brun-Heath, Isabelle; Orozco, Modesto (Oxford University Press, 2019)
    We present Nucleosome Dynamics, a suite of programs integrated into a virtual research environment and created to define nucleosome architecture and dynamics from noisy experimental data. The package allows both the ...
  • PMut: A web-based tool for the annotation of pathological variants on proteins, 2017 update
    López Ferrando, Víctor; Gazzo, Andrea M.; Cruz, Xavier de la; Orozco, Modesto; Gelpí, Josep Lluís (Oxford University Press, 2017)
    We present here a full update of the PMut predictor, active since 2005 and with a large acceptance in the field of predicting Mendelian pathological mutations. PMut internal engine has been renewed, and converted into a ...