GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing

Autor: Jordi Valls-Margarit, Iván Galván-Femenía, Daniel Matías-Sánchez, Natalia Blay, Montserrat Puiggròs, Anna Carreras, Cecilia Salvoro, Beatriz Cortés, Ramon Amela, Xavier Farre, Jon Lerga-Jaso, Marta Puig, Jose Francisco Sánchez-Herrero, Victor Moreno, Manuel Perucho, Lauro Sumoy, Lluís Armengol, Olivier Delaneau, Mario Cáceres, Rafael de Cid, David Torrents

Publikováno v: Nucleic Acids Research
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)

The combined analysis of haplotype panels with phenotype clinical cohorts is a common approach to explore the genetic architecture of human diseases. However, genetic studies are mainly based on single nucleotide variants (SNVs) and small insertions

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5ba8ea97c0da40374c640eb94b47c91
https://hdl.handle.net/2117/364556

Detailed stratified GWAS analysis for severe COVID-19 in four European populations

Autor: Michela Mazzocco, Giuseppe Lamorte, Leonardo Terranova, Cinzia Hu, Xavier Farré, Yascha Khodamoradi, Mauro D'Amato, Christian Herr, David Jiménez, Filippo Martinelli-Boneschi, Anna Latiano, Michael Dreher, Mariella D'Angiò, Rossana Carpani, Francesco Malvestiti, Enrique Navas, Antonio Voza, Anne Ma Dyrhol-Riise, Karina Banasik, Juan Delgado, Florian Kurth, Trinidad Gonzalez Cejudo, Lars Wienbrandt, Carmen de la Horrra, May Sissel Vadla, Aurora Solier, Koldo Garcia-Etxebarria, Karoline I. Gaede, Wolfgang Poller, Eloisa Urrechaga, Paolo Bonfanti, Philipp Schommers, Giuseppe Bellelli, Zehra Karadeniz, Jan Kristian Rybniker, Lisa Knopp, Alfredo Ramirez, Jesus M. Banales, Sibylle Wilfling, Elio Scarpini, Alberto Zanella, Anna Carreras Nolla, Joaquín Dopazo, Sara Pigazzini, Nicole Ludwig, Ingo Kurth, Sandra Ciesek, Dag Arne Lihaug Hoff, Ernesto Contro, Giacomo Grasselli, Maider Intxausti, Kari Risnes, Francisco Mesonero, Thorsten Brenner, Lena J Lippert, Adolfo de Salazar, Maria A. Gutierrez-Stampa, Aaron Blandino Ortiz, María Hernández-Tejero, Rosa Nieto, Jochen Schneider, Anke Hinney, Chiara Scollo, Ariadna Rando-Segura, Victor Moreno, Phillip Suwalski, Valeria Rimoldi, Ricard Ferrer, Jon Lerga-Jaso, Claudio Cappadona, Janine Altmueller, Mahnoosh Ostadreza, Verena Keitel, Lauro Sumoy, Eunate Arana, Annalisa Cavallero, Massimo Castoldi, Stephan Ripke, Antonio Muscatello, Maria J G T Vehreschild, Michael Wittig, Robert Bals, Verena Kopfnagel, David Haschka, Luis Téllez, Heinz Zoller, Isabel Hernández, Carla Bellinghausen, Agustín Ruiz, Manuel Romero-Gómez, Malte C. Ruehlemann, Nikolaus Marx, Luigi Santoro, Silvano Bosari, Carlos Ferrando, M.A. Rodríguez-Gandía, Ronny Myhre, Aleksander Rygh Holten, Marina Elena Cazzaniga, Andreas Lind, Pedro M. Rodrigues, Giacomo Bellani, Alice Braun, Clara Lehmann, Anna Ludovica Fracanzani, Soumya Raychaudhuri, Trine Folseraas, Kerstin U. Ludwig, Lindokuhle Nkambule, Gianni Pezzoli, Julia Kraft, Rocío Gallego-Durán, David Ellinghaus, Rosanna Asselta, Simonas Juzenas, Max Augustin, Mari Niemi, Manolis Kogevinas, Carlo Maj, Serena Pelusi, Stefano Aliberti, Rafael de Cid, Selina Rolker, Victor Andrade, Jonas Bergan, Federico García, Tobias L. Lenz, Andrea Gori, Maria Grazia Valsecchi, Elisa T Helbig, Oliver A. Cornely, Laura Izquierdo-Sanchez, Tom H. Karlsen, Adolfo Garrido Chercoles, Joan Ramon Badia, José Hernández Quero, Benedikt Schaefer, Jatin Arora, Mareike Wendorff, David Pestaña, Thomas Bahmer, Ana Teles, Antonella Ruello, Alessio Gerussi, Francisco J. Medrano, Xiaomin Wang, Joern Walter, Natale Imaz Ayo, Onur oezer, Almut Nebel, Ferruccio Ceriotti, Mercè Boada, Ulf Landmesser, Ana Lleo, Christoph D. Spinner, Sara Bombace, Giuseppe Foti, Antonio Julià, Alessandro Cherubini, Lucia Garbarino, Beatriz Nafria-Jimenez, Hesham ElAbd, Pietro Invernizzi, Paola Faverio, Jordi Barretina, David Toapanta, Iván Galván-Femenía, Sara Marsal, Stefano Duga, Ulrike Protzer, Luisa Roade, Philipp Koehler, Nilda Martinez, Clinton Azuure, Philip Rosenstiel, Daniela Galimberti, Per Hoffmann, Alessandra Bandera, Natalia Blay, Jan Cato Holter, Julia Fazaal, Eike Matthias Wacker, Torsten Feldt, Giovanni Albano, Andre Franke, Mario Cáceres, Roberta Gualtierotti, Sebastian J. Klein, Andreas Glueck, Salvatore Badalamenti, Siegfried Goerg, Isabell Pink, Stefan Schreiber, Leif E. Sander, Javier Fernández, M Seilmaier, Orazio Palmieri, Carsten Skurk, Jan Heyckendorf, Adriana Palom, Stefanie Heilmann-Heimbach, Francesco Blasi, Ilaria My, Mattia Cordioli, Sammra Haider, Giorgio Costantino, Giuseppe Citerio, Nicola Montano, Pedro Castro, Marit Mæhle Grimsrud, Alexander Popov, Ole Bernt Lenning, Holger Neb, Enric Reverter, Erik Solligård, Oliver Witzke, Itziar de Rojas, Flora Peyvandi, Susanne Gjeruldsen Dudman, Daniele Prati, Kristian Tonby, Luca Valenti, Christoph Lange, Alberto Mantovani, Florian Tran, Juan M. Guerrero, Luis Bujanda, Natalia Chueca, Michael Joannidis, Enrique J. Calderon, Elvezia Maria Paraboschi, Vegard Skogen, Bjoern Jensen, Paolo Tentorio, Raúl de Pablo, Cristiana Bianco, Antonio Pesenti, Vicente Friaza, Lars Heggelund, Eva C. Schulte, Markus M. Noethen, Andrea Ganna, Agustín Albillos, Laura Rachele Bettini, Florian Uellendahl-Werth, Covid Aachen Study, Josune Goikoetxea, Jan Kristian Damås, Andrea Biondi, Cristina Sancho, Alessandro Protti, Bettina Heidecker, Ute Hehr, Markus Cornberg, Lise Tuset Gustad, Ana Barreira, Emanuele Pontali, Felix Garcia Sanchez, Johannes R. Hov, Marta Marquié, Maria Buti, Sandra May, Melissa Tomasi, Javier Ampuero, Søren Brunak, Carmen Quereda, Pedro Pablo Espana, Beatriz Mateos, Jan Egil Afset, Mar Riveiro-Barciela, Beatriz Cortés, Thomas Eggermann, Frank Hanses, Julia Schroeder, Karl Erik Mueller, Maria Manunta, Anders Benjamin Kildal, Thomas Illig, Charlotte Thibeault, Maurizio Cecconi, Alena Mayer, Frauke Degenhardt, Douglas Maya-Miles, Alessio Aghemo, Petra Bacher, Marc M. Berger, Francisco Rodriguez-Frias, Fredrik Mueller, Elena Azzolini, Ruben Morilla

Publikováno v: Degenhardt, F, Ellinghaus, D, Juzenas, S, Lerga-Jaso, J, Wendorff, M, Maya-Miles, D, Uellendahl-Werth, F, ElAbd, H, Rühlemann, M C, Arora, J, Özer, O, Lenning, O B, Myhre, R, Vadla, M S, Wacker, E M, Wienbrandt, L, Ortiz, A B, Salazar, A, Chercoles, A G, Palom, A, Ruiz, A, Garcia-Fernandez, A-E, Blanco-Grau, A, Mantovani, A, Zanella, A, Holten, A R, Mayer, A, Bandera, A, Cherubini, A, Protti, A, Aghemo, A, Gerussi, A, Ramirez, A, Braun, A, Nebel, A, Barreira, A, Lleo, A, Teles, A, Kildal, A B, Biondi, A, Caballero-Garralda, A, Ganna, A, Gori, A, Glück, A, Lind, A, Hinney, A, Jensen, B, Banasik, K, Castro, P, Brunak, S & COVICAT study group, Aachen Study (COVAS) 2022, ' Detailed stratified GWAS analysis for severe COVID-19 in four European populations ', Human Molecular Genetics, vol. 31, no. 23, pp. 3945-3966 . https://doi.org/10.1093/hmg/ddac158
ddac158
Human Molecular Genetics
Human molecular genetics : HMG online 31(23), 3945-3966 (2022). doi:10.1093/hmg/ddac158
Human molecular genetics, Oxford : Oxford University Press, 2022, vol. 31, no. 23, p. 3945-3966
Digital.CSIC. Repositorio Institucional del CSIC
instname
Human molecular genetics 31(23), 3945-3966 (2022). doi:10.1093/hmg/ddac158

Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a deeper analysis of the host genetic contribution to severe COVID-19 is important to improve our understanding of underlying disease mechanisms. Here, we describe a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7b101566ae8e5eb3222844e2756df42
https://curis.ku.dk/portal/da/publications/detailed-stratified-gwas-analysis-for-severe-covid19-in-four-european-populations(28d224ed-e846-4731-a527-508a45411ef5).html

Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR

Autor: Sarai Pacheco, Magdalena Gayà-Vidal, George Karlin-Neumann, David Izquierdo, Alejandra Delprat, John F. Regan, Marta Sabariego Puig, Jon Lerga-Jaso, Carla Giner-Delgado, Mario Cáceres

Publikováno v: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Genome Res
Recercat. Dipósit de la Recerca de Catalunya
instname
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)

Despite the interest in characterizing all genomic variation, the presence of large repeats at the breakpoints of many structural variants hinders their analysis. This is especially problematic in the case of inversions, since they are balanced chang

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e30fcd21b884d167c3f2a5606bf0d38
https://ddd.uab.cat/record/234676

Detailed stratified GWAS analysis for severe COVID-19 in four European populations.

Autor: Degenhardt, Frauke, Ellinghaus, David, Juzenas, Simonas, Lerga-Jaso, Jon, Wendorff, Mareike, Maya-Miles, Douglas, Uellendahl-Werth, Florian, ElAbd, Hesham, Rühlemann, Malte C, Arora, Jatin, Özer, Onur, Lenning, Ole Bernt, Myhre, Ronny, Vadla, May Sissel, Wacker, Eike M, Wienbrandt, Lars, Ortiz, Aaron Blandino, Salazar, Adolfo de, Chercoles, Adolfo Garrido, Palom, Adriana

Publikováno v: Human Molecular Genetics; Dec2022, Vol. 31 Issue 23, p3945-3966, 22p

Evolutionary and functional impact of common polymorphic inversions in the human genome.

Autor: Giner-Delgado, Carla, Villatoro, Sergi, Lerga-Jaso, Jon, Gayà-Vidal, Magdalena, Oliva, Meritxell, Castellano, David, Pantano, Lorena, Bitarello, Bárbara D., Izquierdo, David, Noguera, Isaac, Olalde, Iñigo, Delprat, Alejandra, Blancher, Antoine, Lalueza-Fox, Carles, Esko, Tõnu, O'Reilly, Paul F., Andrés, Aida M., Ferretti, Luca, Puig, Marta, Cáceres, Mario

Publikováno v: Nature Communications; 9/17/2019, Vol. 10 Issue 1, pN.PAG-N.PAG, 1p