Browsing by Author "Fernández Callejo, Marcos"

Sort by: Order: Results:

  • Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta)
    Brasó-Vives, Marina, 1990-; Povolotskaya, Inna, 1986-; Hartasánchez Frenk, Diego Andrés, 1982-; Farré, Xavier; Fernández Callejo, Marcos; Raveendran, Muthuswamy; Harris, R. Alan; Rosene, Douglas L.; Lorente Galdós, Maria Belén; Navarro i Cuartiellas, Arcadi, 1969-; Marquès i Bonet, Tomàs, 1975-; Rogers, Jeffrey; Juan Sopeña, David Alejandro, 1975- (Public Library of Science (PLoS), 2020)
    The rhesus macaque is an abundant species of Old World monkeys and a valuable model organism for biomedical research due to its close phylogenetic relationship to humans. Copy number variation is one of the main sources ...
  • Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European
    Olalde Marquínez, Íñigo, 1987-; Sánchez Quinto, Federico A, 1985-; Santpere Baró, Gabriel, 1981-; Rodríguez Pérez, Juan Antonio, 1985-; Quilez Oliete, Javier; Ramírez, Oscar; Marigorta, Urko M.; Fernández Callejo, Marcos; Marquès i Bonet, Tomàs, 1975-; Navarro i Cuartiellas, Arcadi, 1969-; Lalueza Fox, Carles, 1965- (Nature Research, 2014)
    Ancient genomic sequences have started to reveal the origin and the demographic impact of farmers from the Neolithic period spreading into Europe. The adoption of farming, stock breeding and sedentary societies during the ...
  • Dynamics of DNA methylation in recent human and great ape evolution
    Hernando Herráez, Irene, 1985-; Prado Martínez, Javier, 1987-; Garg, Paras; Fernández Callejo, Marcos; Heyn, Holger; Hvilsom, Christina; Navarro i Cuartiellas, Arcadi, 1969-; Esteller, Manel; Sharp, Andrew J.; Marquès i Bonet, Tomàs, 1975- (Public Library of Science (PLoS), 2013)
    DNA methylation is an epigenetic modification involved in regulatory processes such as cell differentiation during development, X-chromosome inactivation, genomic imprinting and susceptibility to complex disease. However, ...
  • From research to rapid response: mass COVID-19 testing by volunteers at the Centre for Genomic Regulation
    Ghose, Ritobrata; Aranguren-Ibáñez, Álvaro; Arecco, Niccolò; Balboa, Diego; Bataller, Marc; Beltran, Sergi; Benisty, Hannah, 1986-; Bénard, Angèle; Bernardo, Edgar; Carbonell Sala, Silvia; Casals, Eloi; Ciampi, Ludovica; Condemi, Livia; Corvò, Alberto; Cosín-Tomás, Marta; Cuenca-Ardura, Mirabai; Duran Serrano, Juan Manuel; Espejo Díaz, María Isabel; Fernández Callejo, Marcos; Gañez-Zapater, Antoni; Garcia-Castellanos, Raquel; Garrido, Romina; Henkin, Gil; Hermoso Pulido, Antonio; Hernandez-Alias, Xavier; Herrero Vicente, Jorge; Ingham, Matthew; Lim, Wei Ming; Llonch, Sílvia; Marmesat Bertoli, Elena; Miguel Escalada, Irene; Montero-Blay, Ariadna; Navarrete Hernández, Cristina; Neguembor, Maria Victoria; Ní Chárthaigh, Róisín-Ana; Pardo-Lorente, Natalia; Pascual-Reguant, Laura, 1990-; Pérez-Lluch, Sílvia; Perza, Reyes; Pesaresi, Martina, 1991-; Picó Amado, Daniel; Pifarré, Paula; Piscia, Davide; Plana-Carmona, Marcos; Ponomarenko, Julia; Radusky, Leandro; Rivero, Ezequiel; Rogalska, Malgorzata; Torcal Garcia, Guillem, 1991-; Wojnacki, José (F1000Research, 2020)
    The COVID-19 pandemic has posed and is continuously posing enormous societal and health challenges worldwide. The research community has mobilized to develop novel projects to find a cure or a vaccine, as well as to ...
  • 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 ...
  • gemBS: high throughput processing for DNA methylation data from bisulfite sequencing
    Merkel, Angelika; Fernández Callejo, Marcos; Casals, Eloi; Marco Sola, Santiago; Schuyler, Ronald P.; Gut, Ivo Glynne; Heath, Simon (Oxford University Press, 2019)
    Motivation: DNA methylation is essential for normal embryogenesis and development in mammals and can be captured at single base pair resolution by whole genome bisulfite sequencing (WGBS). Current available analysis tools ...
  • Gender specific airway gene expression in COPD sub-phenotypes supports a role of mitochondria and of different types of leukocytes
    Esteve-Codina, Anna; Soler Artigas, María; Dabad, Marc; Fernández Callejo, Marcos; Griebel, Thasso; Heath, Simon; Gut, Ivo Glynne; Ziegler-Heitbrock, Loems (Nature Research, 2021)
    Chronic obstructive pulmonary disease (COPD) is a destructive inflammatory disease and the genes expressed within the lung are crucial to its pathophysiology. We have determined the RNAseq transcriptome of bronchial brush ...
  • Genomic analysis of the blood attributed to Louis XVI (1754–1793), king of France
    Olalde Marquínez, Íñigo, 1987-; Sánchez Quinto, Federico A, 1985-; Datta, Debayan; Marigorta, Urko M.; Chiang, Charleston W.K.; Rodríguez, Juan Antonio; Fernández Callejo, Marcos; González Navarrete, Irene, 1983-; Montfort, Magda; Matas Lalueza, Laura; Civit, Sergi; Luiselli, Donata; Charlier, Philippe; Pettener, Davide; Ramírez, Oscar; Navarro i Cuartiellas, Arcadi, 1969-; Himmelbauer, Heinz; Marquès i Bonet, Tomàs, 1975-; Lalueza Fox, Carles, 1965- (Nature Publishing Group, 2014)
    A pyrographically decorated gourd, dated to the French Revolution period, has been alleged to contain a handkerchief dipped into the blood of the French king Louis XVI (1754–1793) after his beheading but recent analyses ...
  • Gibbon genome and the fast karyotype evolution of small apes
    Carbone, Lucia; Lorente-Galdós, Belén, 1981-; Fernández Callejo, Marcos; Hernández Rodríguez, Jéssica, 1983-; Quilez Oliete, Javier; Marquès i Bonet, Tomàs, 1975-; Gibbs, Richard A. (Nature Publishing Group, 2014)
    Gibbons are small arboreal apes that display an accelerated rate of evolutionary chromosomal rearrangement and occupy a key node in the primate phylogeny between Old World monkeys and great apes. Here we present the assembly ...
  • Great ape genetic diversity and population history
    Prado Martínez, Javier, 1987-; Lorente-Galdós, Belén, 1981-; Santpere Baró, Gabriel, 1981-; Casals López, Ferran; Laayouni, Hafid, 1968-; Hernández Rodríguez, Jéssica, 1983-; Hernando Herráez, Irene, 1985-; Pybus Oliveras, Marc, 1985-; Petit, Natalia; Fernández Callejo, Marcos; Dabad, Marc; Carvalho, Tiago Loureiro de, 1987-; Melé Messeguer, Marta, 1982-; Comas, David, 1969-; Navarro i Cuartiellas, Arcadi, 1969-; Bertranpetit, Jaume, 1952-; Marquès i Bonet, Tomàs, 1975- (Nature Publishing Group, 2013)
    Most great ape genetic variation remains uncharacterized1, 2; however, its study is critical for understanding population history3, 4, 5, 6, recombination7, selection8 and susceptibility to disease9, 10. Here we sequence ...
  • Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases
    Corvò, Alberto; Matalonga, Leslie; Laurie, Steven, 1973-; Picó-Amador, Daniel; Fernández Callejo, Marcos; Paramonov, Ida; Gut, Ivo Glynne; Piscia, Davide; Beltran, Sergi (Elsevier, 2023)
    The Solve-RD project objectives include solving undiagnosed rare diseases (RD) through collaborative research on shared genome-phenome datasets. The RD-Connect Genome-Phenome Analysis Platform (GPAP), for data collation ...
  • Similar genomic proportions of copy number variation within gray wolves and modern dog breeds inferred from whole genome sequencing
    Serres Armero, Aitor, 1992-; Povolotskaya, Inna, 1986-; Quilez Oliete, Javier; Ramírez, Oscar; Santpere Baró, Gabriel, 1981-; Kuderna, Lukas, 1989-; Hernández Rodríguez, Jéssica, 1983-; Fernández Callejo, Marcos; Gómez Sánchez, Daniel; Freedman, Adam H.; Fan, Zhenxin; Novembre, John; Navarro i Cuartiellas, Arcadi, 1969-; Boyko, Adam; Wayne, Robert K.; Vilà, Carles; Lorente-Galdós, Belén, 1981-; Marquès i Bonet, Tomàs, 1975- (BioMed Central, 2017)
    BACKGROUND: Whole genome re-sequencing data from dogs and wolves are now commonly used to study how natural and artificial selection have shaped the patterns of genetic diversity. Single nucleotide polymorphisms, microsatellites ...
  • Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
    Matalonga, Leslie; Hernández Ferrer, Carles; Piscia, Davide; Tonda, Raúl; Laurie, Steven, 1973-; Fernández Callejo, Marcos; Picó, Daniel; Garcia-Linares, Carles; Papakonstantinou Ntalis, Anastasios; Corvò, Alberto; Joshi, Ricky S.; Diez, Hector; Gut, Ivo Glynne; Beltran, Sergi; Solve-RD Consortium (Nature Research, 2021)
    Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and ...
  • The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild
    Prado Martínez, Javier, 1987-; Hernando Herráez, Irene, 1985-; Lorente-Galdós, Belén, 1981-; Dabad, Marc; Ramírez, Oscar; Baeza Delgado, Carlos; Morcillo Suárez, Carlos, 1969-; Alkan, Can; Hormozdiari, Fereydoun; Raineri, Emanuele; Estellé, Jordi; Fernández Callejo, Marcos; Vallès, Mònica; Ritscher, Lars; Schöneberg, Torsten; Calle Mustienes, Elisa de la; Casillas, Sònia; Rubio Acero, Raquel; Melé Messeguer, Marta, 1982-; Engelken, Johannes; Cáceres Aguilar, Mario; Gómez Skarmeta, José Luis; Gut, Marta; Bertranpetit, Jaume, 1952-; Gut, Ivo Glynne; Abelló, Teresa; Eichler, Evan E.; Mingarro, Ismael; Lalueza Fox, Carles, 1965-; Navarro i Cuartiellas, Arcadi, 1969-; Marquès i Bonet, Tomàs, 1975- (BioMed Central, 2013)
    BACKGROUND: The only known albino gorilla, named Snowflake, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. He was diagnosed with non-syndromic oculocutaneous ...
  • The interplay between DNA methylation and sequence divergence in recent human evolution
    Hernando Herráez, Irene, 1985-; Heyn, Holger; Fernández Callejo, Marcos; Vidal, Enrique; Fernández Bellon, Hugo; Prado Martínez, Javier, 1987-; Sharp, Andrew J.; Esteller, Manel; Marquès i Bonet, Tomàs, 1975- (Oxford University Press, 2015)
    Despite the increasing knowledge about DNA methylation, the understanding of human epigenome evolution is in its infancy. Using whole genome bisulfite sequencing we identified hundreds of differentially methylated regions ...
  • 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, ...

Search DSpace

Browse

My Account

In collaboration with Compliant to Partaking