Browsing Center for Genomic Regulation (CRG) by Title

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  • GA4GH: International policies and standards for data sharing across genomic research and healthcare
    Rehm, Heidi L.; Beltran, Sergi; Guigó Serra, Roderic; Navarro i Cuartiellas, Arcadi, 1969-; Palumbo, Emilio; Rambla de Argila, Jordi; Birney, Ewan (Elsevier, 2021)
    The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. ...
  • Gal-1 expression analysis in the GLIOCAT multicenter study: Role as a prognostic factor and an immune-suppressive biomarker
    Martínez Bosch, Neus; Alameda Quitllet, Francisco; Arumí Uría, Montserrat; Bellosillo Paricio, Beatriz; Menéndez, Silvia; Esteve-Codina, Anna; Martínez-García, Maria; Navarro Medrano, Pilar (MDPI, 2023)
    Glioblastoma (GBM) is the most frequent primary malignant brain tumor and has a dismal prognosis. Unfortunately, despite the recent revolution of immune checkpoint inhibitors in many solid tumors, these have not shown a ...
  • Gap gene regulatory dynamics evolve along a genotype network
    Crombach, Anton; Wotton, Karl R.; Jiménez Guri, Eva; Jaeger, Johannes, 1973- (Oxford University Press, 2016)
    Developmental gene networks implement the dynamic regulatory mechanisms that pattern and shape the organism. Over evolutionary time, the wiring of these networks changes, yet the patterning outcome is often preserved, a ...
  • GATA2 promotes hematopoietic development and represses cardiac differentiation of human mesoderm
    Castaño, Julio; Aranda Aragón, Sergio; Blanco, Enrique; Mereu, Elisabetta; Heyn, Holger; Di Croce, Luciano; Giorgetti, Alessandra (Elsevier, 2019)
    In vertebrates, GATA2 is a master regulator of hematopoiesis and is expressed throughout embryo development and in adult life. Although the essential role of GATA2 in mouse hematopoiesis is well established, its involvement ...
  • GDF5 point mutation strikes twice--causing BDA1 and SYNS2
    Degenkolbe, Elisa; König, Jana; Zimmer, Julia; Walther, Maria; Reißner, Carsten; Nickel, Joachim; Plöger, Frank; Raspopovic, Jelena, 1984-; Sharpe, James; Dathe, Katarina; Hecht, Jacqueline T.; Mundlos, Stefan; Doelken, Sandra C.; Seemann, Petra (Public Library of Science (PLoS), 2013)
    Growth and Differentiation Factor 5 (GDF5) is a secreted growth factor that belongs to the Bone Morphogenetic Protein (BMP) family and plays a pivotal role during limb development. GDF5 is a susceptibility gene for ...
  • Gearing up to handle the mosaic nature of life in the quest for orthologs
    Forslund, Kristoffer; Pereira, Cecile; Capella Gutiérrez, Salvador Jesús, 1985-; Sousa da Silva, Alan; Altenhoff, Adrian M.; Huerta Cepas, Jaime; Muffato, Matthieu; Patricio, Mateus; Vandepoele, Klaas; Ebersberger, Ingo; Blake, Judith; Fernández Breis, Jesualdo Tomás; Quest for Orthologs consortium; Boeckmann, Brigitte; Gabaldón Estevan, Juan Antonio, 1973-; Sonnhammer, Erik; Dessimoz, Christophe; Lewis, Suzanna E. (Oxford University Press, 2018)
    The Quest for Orthologs (QfO) is an open collaboration framework for experts in comparative phylogenomics and related research areas who have an interest in highly accurate orthology predictions and their applications. We ...
  • 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 ...
  • GENCODE 2021
    Frankish, Adam; Lagarde, Julien; Carbonell Sala, Silvia; Guigó Serra, Roderic; Flicek, Paul (Oxford University Press, 2021)
    The GENCODE project annotates human and mouse genes and transcripts supported by experimental data with high accuracy, providing a foundational resource that supports genome biology and clinical genomics. GENCODE annotation ...
  • GENCODE reference annotation for the human and mouse genomes
    Frankish, Adam; Carbonell Sala, Silvia; Lagarde, Julien; Guigó Serra, Roderic (Oxford University Press, 2019)
    The accurate identification and description of the genes in the human and mouse genomes is a fundamental requirement for high quality analysis of data informing both genome biology and clinical genomics. Over the last 15 ...
  • GENCODE: reference annotation for the human and mouse genomes in 2023
    Frankish, Adam; Carbonell Sala, Silvia; Arnan Ros, Carme; Calvet, Ferriol; Lagarde, Julien; Guigó Serra, Roderic; Flicek, Paul (Oxford University Press, 2023)
    GENCODE produces high quality gene and transcript annotation for the human and mouse genomes. All GENCODE annotation is supported by experimental data and serves as a reference for genome biology and clinical genomics. The ...
  • GENCODE: the reference human genome annotation for The ENCODE Project
    Harrow, Jennifer; Tanzer, Andrea; Guigó Serra, Roderic; Hubbard, Tim J. (Cold Spring Harbor Laboratory Press (CSHL Press), 2012)
    The GENCODE Consortium aims to identify all gene features in the human genome using a combination of computational analysis, manual annotation, and experimental validation. Since the first public release of this annotation ...
  • 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 ...
  • Gene duplications, divergence and recombination shape adaptive evolution of the fish ectoparasite Gyrodactylus bullatarudis
    Konczal, Mateusz; Przesmycka, Karolina J.; Mohammed, Ryan S.; Phillips, Karl P.; Cámara, Francisco; Chmielewski, Sebastian; Hahn, Christoph; Guigó Serra, Roderic; Cable, Jo; Radwan, Jacek (Wiley-Blackwell, 2020)
    Determining the molecular basis of parasite adaptation to its host is an important component in understanding host-parasite coevolution and the epidemiology of parasitic infections. Here, we investigate short- and long-term ...
  • Gene expression changes in blood RNA after swimming in a chlorinated pool
    Salas, Lucas A.; Font Ribera, Laia; Bustamante Pineda, Mariona; Sumoy Van Dyck, Lauro; Grimalt Obrador, Joan; Bonnin, Sarah; Aguilar Morón, María Asunción; Mattlin, Heidi; Hummel, Manuela; Ferrer Del Alamo, Ana; Kogevinas, Manolis; Villanueva Belmonte, Cristina (Elsevier, 2017)
    Exposure to disinfection by-products (DBP) such as trihalomethanes (THM) in swimming pools has been linked to adverse health effects in humans, but their biological mechanisms are unclear. We evaluated short-term changes ...
  • Gene expression profiles controlled by the alternative splicing factor nova2 in endothelial cells
    Belloni, Elisa; Di Matteo, Anna; Pradella, Davide; Vacca, Margherita; Wyatt, Christopher Douglas Robert, 1988-; Alfieri, Roberta; Maffia, Antonio; Sabbioneda, Simone; Ghigna, Claudia (MDPI, 2019)
    Alternative splicing (AS) plays an important role in expanding the complexity of the human genome through the production of specialized proteins regulating organ development and physiological functions, as well as contributing ...
  • Gene flow contributes to diversification of the major fungal pathogen Candida albicans
    Ropars, Jeanne; Marcet Houben, Marina; Gabaldón Estevan, Juan Antonio, 1973-; d'Enfert, Christophe (Nature Research, 2018)
    Elucidating population structure and levels of genetic diversity and recombination is necessary to understand the evolution and adaptation of species. Candida albicans is the second most frequent agent of human fungal ...
  • Gene fusions derived by transcriptional readthrough are driven by segmental duplication in human
    McCartney, Ann M.; Hyland, Edel M.; Cormican, Paul; Moran, Raymond J.; Webb, Andrew E.; Lee, Kate D.; Hernández Rodríguez, Jéssica, 1983-; Prado Martínez, Javier, 1987-; Creevey, Christopher J.; Aspden, Julie L.; McInerney, James O.; Marquès i Bonet, Tomàs, 1975-; O'Connell, Mary J. (Oxford University Press, 2019)
    Gene fusion occurs when two or more individual genes with independent open reading frames becoming juxtaposed under the same open reading frame creating a new fused gene. A small number of gene fusions described in detail ...
  • Gene gain and loss across the Metazoan Tree of Life
    Fernández, Rosa; Gabaldón Estevan, Juan Antonio, 1973- (Nature Research, 2020)
    Although recent research has revealed high genomic complexity in the earliest-splitting animals and their ancestors, the macroevolutionary trends orchestrating gene repertoire evolution throughout the animal phyla remain ...
  • Gene regulatory networks of epidermal and neural fate choice in a chordate
    Leon, Anthony; Subirana, Lucie; Magre, Kevin; Cases, Ildefonso; Tena, Juan J.; Irimia Martínez, Manuel; Gómez Skarmeta, José Luis; Escriva, Hector; Bertrand, Stéphanie (Oxford University Press, 2022)
    Neurons are a highly specialized cell type only found in metazoans. They can be scattered throughout the body or grouped together, forming ganglia or nerve cords. During embryogenesis, centralized nervous systems develop ...
  • Gene-specific patterns of expression variation across organs and species
    Breschi, Alessandra, 1988-; Djebali, Sarah; Gillis, Jesse; Pervouchine, Dmitri D.; Dobin, Alexander; Davis, Carrie A.; Gingeras, Thomas R.; Guigó Serra, Roderic (BioMed Central, 2016)
    Background: A comparison of transcriptional profiles derived from different tissues in a given species or among different species assumes that commonalities reflect evolutionarily conserved programs and that differences ...

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