Browsing by Author "Camps-Puchadas, Jordi"

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  • Centrosome clustering and cyclin D1 gene amplification in double minutes are common events in chromosomal
    del Rey, Javier; Prat, Esther; Ponsa, Immaculada; Lloreta Trull, Josep, 1958-; Gelabert, Antoni; Algaba, Ferran; Camps-Puchadas, Jordi; Miró, Rosa (BioMed Central, 2010)
    Background: Aneuploidy, centrosome abnormalities and gene amplification are hallmarks of chromosome instability (CIN) in cancer. Yet there are no studies of the in vivo behavior of these phenomena within the same bladder ...
  • Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data
    Maceda Porto, Iago, 1986-; Martín Álvarez, Miguel; Athanasiadis, Georgios; Tonda, Raúl; Camps-Puchadas, Jordi; Beltran, Sergi; Camps, Agustí; Fàbrega, Jordi; Felisart, Josefina; Grané, Joan; Remón, José Luis; Serra, Jordi; Moral, Pedro; Lao Grueso, Oscar, 1976- (Springer Nature, 2021)
    The area of the Spanish Pyrenees is particularly interesting for studying the demographic dynamics of European rural areas given its orography, the main traditional rural condition of its population and the reported higher ...
  • From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing
    Laurie, Steven, 1973-; Fernández Callejo, Marcos; Marco Sola, Santiago; Trotta, Jean-Remi; Camps-Puchadas, Jordi; Chacón, Alejandro; Espinosa, Antonio; Gut, Marta; Gut, Ivo Glynne; Heath, Simon; Beltran, Sergi (Wiley, 2016)
    As whole genome sequencing becomes cheaper and faster, it will progressively substitute targeted next-generation sequencing as standard practice in research and diagnostics. However, computing cost–performance ratio is not ...
  • The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
    Laurie, Steven, 1973-; Piscia, Davide; Matalonga, Leslie; Corvò, Alberto; Fernández Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles, 1987-; Luengo, Cristina; Martínez, Inés; Papakonstantinou Ntalis, Anastasios; Picó-Amador, Daniel; Protasio, Joan; Tonda, Raúl; Bayés, Mònica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Remi; Pérez Jurado, Luis Alberto; Rambla de Argila, Jordi; Gut, Ivo Glynne; Lochmüller, Hanns; Beltran, Sergi (Wiley, 2022)
    Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, ...