Search Results - "Cuccuru, Gianmauro"

Orione, a web-based framework for NGS analysis in microbiology by Cuccuru, Gianmauro, Orsini, Massimiliano, Pinna, Andrea, Sbardellati, Andrea, Soranzo, Nicola, Travaglione, Antonella, Uva, Paolo, Zanetti, Gianluigi, Fotia, Giorgio

“…End-to-end next-generation sequencing microbiology data analysis requires a diversity of tools covering bacterial resequencing, de novo assembly, scaffolding,…”
Get full text

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report by Alves, Rita Maria, Uva, Paolo, Veiga, Marielza F, Oppo, Manuela, Zschaber, Fabiana C R, Porcu, Giampiero, Porto, Henrique P, Persico, Ivana, Onano, Stefano, Cuccuru, Gianmauro, Atzeni, Rossano, Vieira, Lauro C N, Pires, Marcos V A, Cucca, Francesco, Toralles, Maria Betânia P, Angius, Andrea, Crisponi, Laura

“…KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short…”
Get full text

The PARIGA server for real time filtering and analysis of reciprocal BLAST results by Orsini, Massimiliano, Carcangiu, Simone, Cuccuru, Gianmauro, Uva, Paolo, Tramontano, Anna

“…BLAST-based similarity searches are commonly used in several applications involving both nucleotide and protein sequences. These applications span from simple…”
Get full text

An accessible infrastructure for artificial intelligence using a Docker-based JupyterLab in Galaxy by Kumar, Anup, Cuccuru, Gianmauro, Grüning, Björn, Backofen, Rolf

“…Abstract Background Artificial intelligence (AI) programs that train on large datasets require powerful compute infrastructure consisting of several CPU cores…”
Get full text

Bacterial Genomic Data Analysis in the Next-Generation Sequencing Era by Orsini, Massimiliano, Cuccuru, Gianmauro, Uva, Paolo, Fotia, Giorgio

“…Bacterial genome sequencing is now an affordable choice for many laboratories for applications in research, diagnostic, and clinical microbiology. Nowadays, an…”
Get more information

BioBlend.objects: metacomputing with Galaxy by Leo, Simone, Pireddu, Luca, Cuccuru, Gianmauro, Lianas, Luca, Soranzo, Nicola, Afgan, Enis, Zanetti, Gianluigi

“…BioBlend.objects is a new component of the BioBlend package, adding an object-oriented interface for the Galaxy REST-based application programming interface…”
Get full text

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis by Cucca, Francesco, Sanna, Serena, Pitzalis, Maristella, Zoledziewska, Magdalena, Zara, Ilenia, Sidore, Carlo, Murru, Raffaele, Whalen, Michael B, Busonero, Fabio, Maschio, Andrea, Costa, Gianna, Melis, Maria Cristina, Deidda, Francesca, Poddie, Fausto, Morelli, Laura, Farina, Gabriele, Li, Yun, Dei, Mariano, Lai, Sandra, Mulas, Antonella, Cuccuru, Gianmauro, Porcu, Eleonora, Liang, Liming, Zavattari, Patrizia, Moi, Loredana, Deriu, Elisa, Urru, M Francesca, Bajorek, Michele, Satta, Maria Anna, Cocco, Eleonora, Ferrigno, Paola, Sotgiu, Stefano, Pugliatti, Maura, Traccis, Sebastiano, Angius, Andrea, Melis, Maurizio, Rosati, Giulio, Abecasis, Gonçalo R, Uda, Manuela, Marrosu, Maria Giovanna, Schlessinger, David

“…A genome-wide association scan of ∼6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls…”
Get full text

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis by Palagano, Eleonora, Blair, Harry C, Pangrazio, Alessandra, Tourkova, Irina, Strina, Dario, Angius, Andrea, Cuccuru, Gianmauro, Oppo, Manuela, Uva, Paolo, Van Hul, Wim, Boudin, Eveline, Superti‐Furga, Andrea, Faletra, Flavio, Nocerino, Agostino, Ferrari, Matteo C, Grappiolo, Guido, Monari, Marta, Montanelli, Alessandro, Vezzoni, Paolo, Villa, Anna, Sobacchi, Cristina

“…Autosomal recessive osteopetrosis (ARO) is a rare genetic bone disease with genotypic and phenotypic heterogeneity, sometimes translating into delayed…”
Get full text

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP by Angius, Andrea, Uva, Paolo, Oppo, Manuela, Persico, Ivana, Onano, Stefano, Olla, Stefania, Pes, Valentina, Perria, Chiara, Cuccuru, Gianmauro, Atzeni, Rossano, Serra, Gigliola, Cucca, Francesco, Sotgiu, Stefano, Hennekam, Raoul C., Crisponi, Laura

“…We report here a novel de novo missense variant affecting the last amino acid of exon 30 of CREBBP [NM_004380, c.5170G>A; p.(Glu1724Lys)] in a 17‐year‐old boy…”
Get full text

The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2022 update by Afgan, Enis, Nekrutenko, Anton, Grüning, Bjórn, Blankenberg, Daniel, Goecks, Jeremy, Schatz, Michael, Ostrovsky, Alexander, Mahmoud, Alexandru, Lonie, Andrew, Syme, Anna, Fouilloux, Anne, Bretaudeau, Anthony, Kumar, Anup, Eschenlauer, Arthur, Desanto, Assunta, Guerler, Aysam, Serrano-Solano, Beatriz, Batut, Bérénice, Grüning, Björn, Langhorst, Bradley, Carr, Bridget, Raubenolt, Bryan, Hyde, Cameron, Bromhead, Catherine, Barnett, Christopher, Royaux, Coline, Gallardo, Cristóbal, Fornika, Daniel, Baker, Dannon, Bouvier, Dave, Clements, Dave, de Lima Morais, David, Tabernero, David Lopez, Lariviere, Delphine, Nasr, Engy, Zambelli, Federico, Heyl, Florian, Psomopoulos, Fotis, Coppens, Frederik, Price, Gareth, Cuccuru, Gianmauro, Corguillé, Gildas Le, von Kuster, Greg, Akbulut, Gulsum Gudukbay, Rasche, Helena, Hotz, Hans-Rudolf, Eguinoa, Ignacio, Makunin, Igor, Ranawaka, Isuru, Taylor, James, Joshi, Jayadev, Hillman-Jackson, Jennifer, Chilton, John, Kamali, Kaivan, Suderman, Keith, Poterlowicz, Krzysztof, Le Bras, Yvan, Lopez-Delisle, Lucille, Sargent, Luke, Bassetti, Madeline, Tangaro, Marco Antonio, van den Beek, Marius, Čech, Martin, Bernt, Matthias, Fahrner, Matthias, Tekman, Mehmet, Föll, Melanie, Pétéra, Mélanie, Crusoe, Michael, Roncoroni, Miguel, Kucher, Natalie, Coraor, Nate, Stoler, Nicholas, Rhodes, Nick, Soranzo, Nicola, Pinter, Niko, Goonasekera, Nuwan, Moreno, Pablo, Videm, Pavankumar, Mandreoli, Pietro, Jagtap, Pratik, Gu, Qiang, Weber, Ralf, Lazarus, Ross, Vorderman, Ruben, Hiltemann, Saskia, Golitsynskiy, Sergey, Garg, Shilpa, Bray, Simon, Gladman, Simon, Leo, Simone, Mehta, Subina, Griffin, Timothy, Jalili, Vahid, Yves, Vandenbrouck, Wen, Victor, Nagampalli, Vijay, Bacon, Wendi, de Koning, Willem, Maier, Wolfgang

“…Abstract Galaxy is a mature, browser accessible workbench for scientific computing. It enables scientists to share, analyze and visualize their own data, with…”
Get full text

Simulating Cardiac Electrophysiology Using Unstructured All-Hexahedra Spectral Elements by Southern, James, Maggio, Fabio, Fotia, Giorgio, Cuccuru, Gianmauro

“…We discuss the application of the spectral element method to the monodomain and bidomain equations describing propagation of cardiac action potential. Models…”
Get full text

Training Infrastructure as a Service by Rasche, Helena, Hyde, Cameron, Davis, John, Gladman, Simon, Coraor, Nate, Bretaudeau, Anthony, Cuccuru, Gianmauro, Bacon, Wendi, Serrano-Solano, Beatriz, Hillman-Jackson, Jennifer, Hiltemann, Saskia, Zhou, Miaomiao, Grüning, Björn, Stubbs, Andrew

“…Abstract Background Hands-on training, whether in bioinformatics or other domains, often requires significant technical resources and knowledge to set up and…”
Get full text

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa by Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

“…Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) is a very rare autosomal-recessive disorder characterized by a complex phenotype with high…”
Get full text

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa by Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

Get full text

Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses by Angius, Andrea, Uva, Paolo, Oppo, Manuela, Buers, Insa, Persico, Ivana, Onano, Stefano, Cuccuru, Gianmauro, Van Allen, Margot I., Hulait, Gurdip, Aubertin, Gudrun, Muntoni, Francesco, Fry, Andrew E., Annerén, Göran, Stattin, Eva‐Lena, Palomares‐Bralo, María, Santos‐Simarro, Fernando, Cucca, Francesco, Crisponi, Giangiorgio, Rutsch, Frank, Crisponi, Laura

“…Crisponi/cold‐induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding…”
Get full text

Expanding the Galaxy's reference data by VijayKrishna, Nagampalli, Joshi, Jayadev, Coraor, Nate, Hillman-Jackson, Jennifer, Bouvier, Dave, van den Beek, Marius, Eguinoa, Ignacio, Coppens, Frederik, Davis, John, Stolarczyk, Michał, Sheffield, Nathan C, Gladman, Simon, Cuccuru, Gianmauro, Grüning, Björn, Soranzo, Nicola, Rasche, Helena, Langhorst, Bradley W, Bernt, Matthias, Fornika, Dan, de Lima Morais, David Anderson, Barrette, Michel, van Heusden, Peter, Petrillo, Mauro, Puertas-Gallardo, Antonio, Patak, Alex, Hotz, Hans-Rudolf, Blankenberg, Daniel

“…Properly and effectively managing reference datasets is an important task for many bioinformatics analyses. Refgenie is a reference asset management system…”
Get full text

Genome-wide association study of susceptibility loci for breast cancer in Sardinian population by Palomba, Grazia, Loi, Angela, Porcu, Eleonora, Cossu, Antonio, Zara, Ilenia, Budroni, Mario, Dei, Mariano, Lai, Sandra, Mulas, Antonella, Olmeo, Nina, Ionta, Maria Teresa, Atzori, Francesco, Cuccuru, Gianmauro, Pitzalis, Maristella, Zoledziewska, Magdalena, Olla, Nazario, Lovicu, Mario, Pisano, Marina, Abecasis, Gonçalo R, Uda, Manuela, Tanda, Francesco, Michailidou, Kyriaki, Easton, Douglas F, Chanock, Stephen J, Hoover, Robert N, Hunter, David J, Schlessinger, David, Sanna, Serena, Crisponi, Laura, Palmieri, Giuseppe

“…Despite progress in identifying genes associated with breast cancer, many more risk loci exist. Genome-wide association analyses in genetically-homogeneous…”
Get full text

An automated infrastructure to support high-throughput bioinformatics by Cuccuru, Gianmauro, Leo, Simone, Lianas, Luca, Muggiri, Michele, Pinna, Andrea, Pireddu, Luca, Uva, Paolo, Angius, Andrea, Fotia, Giorgio, Zanetti, Gianluigi

“…The number of domains affected by the big data phenomenon is constantly increasing, both in science and industry, with high-throughput DNA sequencers being…”
Get full text