| Publications |
| 2022 |
| Ferran Nadeu, Romina Royo, Ramon Massoni-Badosa, Heribert Playa-Albinyana, Beatriz Garcia-Torre, Martí Duran-Ferrer, Kevin J Dawson, Marta Kulis, Ander Diaz-Navarro, Neus Villamor, Juan L Melero, Vicente Chapaprieta, Ana Dueso-Barroso, Julio Delgado, Riccardo Moia, Sara Ruiz-Gil, Domenica Marchese, Ariadna Giró, Núria Verdaguer-Dot, Mónica Romo, Guillem Clot, Maria Rozman, Gerard Frigola, Alfredo Rivas-Delgado, Tycho Baumann, Miguel Alcoceba, Marcos González, Fina Climent, Pau Abrisqueta, Josep Castellví, Francesc Bosch, Marta Aymerich, Anna Enjuanes, Sílvia Ruiz-Gaspá, Armando López-Guillermo, Pedro Jares, Sílvia Beà, Salvador Capella-Gutierrez, Josep Ll Gelpí, Núria López-Bigas, David Torrents, Peter J Campbell, Ivo Gut, Davide Rossi, Gianluca Gaidano, Xose S Puente, Pablo M Garcia-Roves, Dolors Colomer, Holger Heyn, Francesco Maura, José I Martín-Subero, Elías Campo. Detection of early seeding of Richter transformation in chronic lymphocytic leukemia Nat Med. 2022 Aug;28(8):1662-1671. doi: 10.1038/s41591-022-01927-8. Epub 2022 Aug 11. |
Mark J O’Connor, Philip Schroeder, Alicia Huerta-Chagoya, Paula Cortés-Sánchez, Silvía Bonàs-Guarch, Marta Guindo-Martínez, Joanne B Cole, Varinderpal Kaur, David Torrents, Kumar Veerapen, Niels Grarup, Mitja Kurki, Carsten F Rundsten, Oluf Pedersen, Ivan Brandslund, Allan Linneberg, Torben Hansen, Aaron Leong, Jose C Florez, Josep M Mercader. Recessive Genome-Wide Meta-analysis Illuminates Genetic Architecture of Type 2 Diabetes. Diabetes. 2022 Mar 1;71(3):554-565. doi: 10.2337/db21-0545. |
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. GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing. Nucleic Acids Res. 2022 Mar 21;50(5):2464-2479. doi: 10.1093/nar/gkac076. PMID: 35176773. |
Gonzalo Gomez-Sanchez, Luisa Delgado-Serrano, David Carrera, David Torrents, Josep Ll Berral. Clustering and graph mining techniques for classification of complex structural variations in cancer genomes. Sci Rep. 2022 Feb 28;12(1):3244. doi: 10.1038/s41598-022-07211-6. PMID: 35228601. |
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| 2021 |
| Heidi L Rehm, Angela JH Page, Lindsay Smith, Jeremy B Adams, Gil Alterovitz, Lawrence J Babb, Maxmillian P Barkley, Michael Baudis, Michael JS Beauvais, Tim Beck, Jacques S Beckmann, Sergi Beltran, David Bernick, Alexander Bernier, James K Bonfield, Tiffany F Boughtwood, Guillaume Bourque, Sarion R Bowers, Anthony J Brookes, Michael Brudno, Matthew H Brush, David Bujold, Tony Burdett, Orion J Buske, Moran N Cabili, Daniel L Cameron, Robert J Carroll, Esmeralda Casas-Silva, Debyani Chakravarty, Bimal P Chaudhari, Shu Hui Chen, J Michael Cherry, Justina Chung, Melissa Cline, Hayley L Clissold, Robert M Cook-Deegan, Mélanie Courtot, Fiona Cunningham, Miro Cupak, Robert M Davies, Danielle Denisko, Megan J Doerr, Lena I Dolman, Edward S Dove, L Jonathan Dursi, Stephanie OM Dyke, James A Eddy, Karen Eilbeck, Kyle P Ellrott, Susan Fairley, Khalid A Fakhro, Helen V Firth, Michael S Fitzsimons, Marc Fiume, Paul Flicek, Ian M Fore, Mallory A Freeberg, Robert R Freimuth, Lauren A Fromont, Jonathan Fuerth, Clara L Gaff, Weiniu Gan, Elena M Ghanaim, David Glazer, Robert C Green, Malachi Griffith, Obi L Griffith, Robert L Grossman, Tudor Groza, Jaime M Guidry Auvil, Roderic Guigó, Dipayan Gupta, Melissa A Haendel, Ada Hamosh, David P Hansen, Reece K Hart, Dean Mitchell Hartley, David Haussler, Rachele M Hendricks-Sturrup, Calvin WL Ho, Ashley E Hobb, Michael M Hoffman, Oliver M Hofmann, Petr Holub, Jacob Shujui Hsu, Jean-Pierre Hubaux, Sarah E Hunt, Ammar Husami, Julius O Jacobsen, Saumya S Jamuar, Elizabeth L Janes, Francis Jeanson, Aina Jené, Amber L Johns, Yann Joly, Steven JM Jones, Alexander Kanitz, Kazuto Kato, Thomas M Keane, Kristina Kekesi-Lafrance, Jerome Kelleher, Giselle Kerry, Seik-Soon Khor, Bartha M Knoppers, Melissa A Konopko, Kenjiro Kosaki, Martin Kuba, Jonathan Lawson, Rasko Leinonen, Stephanie Li, Michael F Lin, Mikael Linden, Xianglin Liu, Isuru Udara Liyanage, Javier Lopez, Anneke M Lucassen, Michael Lukowski, Alice L Mann, John Marshall, Michele Mattioni, Alejandro Metke-Jimenez, Anna Middleton, Richard J Milne, Fruzsina Molnár-Gábor, Nicola Mulder, Monica C Munoz-Torres, Rishi Nag, Hidewaki Nakagawa, Jamal Nasir, Arcadi Navarro, Tristan H Nelson, Ania Niewielska, Amy Nisselle, Jeffrey Niu, Tommi H Nyrönen, Brian D O’Connor, Sabine Oesterle, Soichi Ogishima, Vivian Ota Wang, Laura AD Paglione, Emilio Palumbo, Helen E Parkinson, Anthony A Philippakis, Angel D Pizarro, Andreas Prlic, Jordi Rambla, Augusto Rendon, Renee A Rider, Peter N Robinson, Kurt W Rodarmer GA4GH: International policies and standards for data sharing across genomic research and healthcare. Cell Genom. 2021 Nov 10;1(2):100029. doi: 10.1016/j.xgen.2021.100029. |
Lorena Alonso, Anthony Piron, Ignasi Morán, Marta Guindo-Martínez, Sílvia Bonàs-Guarch, Goutham Atla, Irene Miguel-Escalada, Romina Royo, Montserrat Puiggròs, Xavier Garcia-Hurtado, Mara Suleiman, Lorella Marselli, Jonathan L S Esguerra, Jean-Valéry Turatsinze, Jason M Torres, Vibe Nylander, Ji Chen, Lena Eliasson, Matthieu Defrance, Ramon Amela, MAGIC; Hindrik Mulder, Anna L Gloyn, Leif Groop, Piero Marchetti, Decio L Eizirik, Jorge Ferrer, Josep M Mercader, Miriam Cnop, David Torrents. TIGER: The gene expression regulatory variation landscape of human pancreatic islets Cell Rep. 2021 Oct 12;37(2):109807. doi: 10.1016/j.celrep.2021.109807. PMID: 34644572. |
Alonso, L.; Morán, I. Salvoro, C.; Torrents, D. In Search of Complex Disease Risk through Genome Wide Association Studies. . Mathematics. 2021, 9, 3083. |
Roque Pastor-Ibáñez, Francisco D&iacteu;ez-Fuertes, Sonsoles Sánchez-Palomino, Jose Alcamí, Montserrat Plana, David Torrents, Lorna Leal, Felipe García. Impact of Transcriptome and Gut Microbiome on the Response of HIV-1 Infected Individuals to a Dendritic Cell-Based HIV Therapeutic Vaccine Vaccines (Basel). 2021 Jun 24;9(7):694. doi: 10.3390/vaccines9070694. |
Guindo-Martínez M, Amela R, Bonàs-Guarch S, Puiggròs M, Salvoro C, Miguel-Escalada I, Carey CE, Cole JB, Rüeger S, Atkinson E, Leong A, Sanchez F, Ramon-Cortes C, Ejarque J, Palmer DS, Kurki M; FinnGen Consortium, Aragam K, Florez JC, Badia RM, Mercader JM, Torrents D. The impact of non-additive genetic associations on age-related complex diseases. Nat Commun. 2021 Apr 23;12(1):2436. doi: 10.1038/s41467-021-21952-4. PMID: 33893285. |
Pastor-Ibáñez R, Blanco-Heredia J, Etcheverry F, Sánchez-Palomino S, Díez-Fuertes F, Casas R, Navarrete-Muñoz MÁ, Castro-Barquero S, Lucero C, Fernández I, Leal L, Benito JM, Noguera-Julian M, Paredes R, Rallón N, Estruch R, Torrents D, García F. Adherence to a Supplemented Mediterranean Diet Drives Changes in the Gut Microbiota of HIV-1-Infected Individuals. Nutrients. 2021 Mar doi: 10.3390/nu13041141. PMID: 33808476; PMCID: PMC8067262. |
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| 2020 |
| Konstantin Helmsauer, Maria E Valieva, Salaheddine Ali, Roc&icaute;o Chamorro González, Robert Schöpflin, Claudia Röefzaad, Yi Bei, Heathcliff Dorado Garcia, Elias Rodriguez-Fos, Montserrat Puiggròs, Katharina Kasack, Kerstin Haase, Csilla Keskeny, Celine Y Chen, Luis P Kuschel, Philipp Euskirchen, Verena Heinrich, Michael I Robson, Carolina Rosswog, Joern Toedling, Annabell Szymansky, Falk Hertwig, Matthias Fischer, David Torrents, Angelika Eggert, Johannes H Schulte, Stefan Mundlos, Anton G Henssen, Richard P Koche. Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma Nat Commun. 2020 Nov; 11, 5823. https://doi.org/10.1038/s41467-020-19452-y. |
Bailey MH, Meyerson WU, Dursi LJ, Wang LB, Dong G, Liang WW, Weerasinghe A, Li S, Li Y, Kelso S; MC3 Working Group; PCAWG novel somatic mutation calling methods working group, Saksena G, Ellrott K, Wendl MC, Wheeler DA, Getz G, Simpson JT, Gerstein MB, Ding L; PCAWG Consortium. Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. Nat Commun. 2020 Sep 21;11(1):4748. doi: 10.1038/s41467-020-18151-y. |
Li CH, Prokopec SD, Sun RX, Yousif F, Schmitz N; PCAWG Tumour Subtypes and Clinical Translation, Boutros PC; PCAWG Consortium. Sex differences in oncogenic mutational processes. Nat Commun. 2020 Aug 28;11(1):4330. doi: 10.1038/s41467-020-17359-2. PMID: 32859912; PMCID: PMC7455744. |
Bernardo Rodriguez-Martin, Eva G Alvarez, Adrian Baez-Ortega, Jorge Zamora, Fran Supek, Jonas Demeulemeester, Martin Santamarina, Young Seok Ju, Javier Temes, Daniel Garcia-Souto, Harald Detering, Yilong Li, Jorge Rodriguez-Castro, Ana Dueso-Barroso, Alicia L Bruzos, Stefan C Dentro, Miguel G Blanco, Gianmarco Contino, Daniel Ardeljan, Marta Tojo, Nicola D Roberts, Sonia Zumalave, Paul A W Edwards, Joachim Weischenfeldt, Montserrat Puiggròs, Zechen Chong, Ken Chen, Eunjung Alice Lee, Jeremiah A Wala, Keiran Raine, Adam Butler, Sebastian M Waszak, Fabio C P Navarro, Steven E Schumacher, Jean Monlong, Francesco Maura, Niccolo Bolli, Guillaume Bourque, Mark Gerstein, Peter J Park, David C Wedge, Rameen Beroukhim, David Torrents, Jan O Korbel, Inigo Martincorena, Rebecca C Fitzgerald, Peter Van Loo, Haig H Kazazian, Kathleen H Burns, PCAWG Structural Variation Working Group; Peter J Campbell, Jose M C Tubio, PCAWG Consortium. Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition. Nat Genet. 2020 Jun. doi:10.1038/s41588-019-0562-0. |
Ferran Nadeu, David Martin-Garcia, Guillem Clot, Ander Díaz-Navarro, Martí Duran-Ferrer, Alba Navarro, Roser Vilarrasa-Blasi, Marta Kulis, Romina Royo, Jesús Gutiérrez-Abril, Rafael Valdés-Mas, Cristina López, Vicente Chapaprieta, Montserrat Puiggròs, Giancarlo Castellano, Dolors Costa, Marta Aymerich, Pedro Jares, Blanca Espinet, Ana Muntañola, Inmaculada Ribera-Cortada, Reiner Siebert, Dolors Colomer, David Torrents, Eva Gine, Armando López-Guillermo, Ralf K üppers, Iñaki Martin-Subero, Xose S Puente, Sílvia Beà, Elías Campo. Genomic and epigenomic insights into the origin, pathogenesis and clinical behavior of mantle cell lymphoma subtypes. Blood. 2020 Jun. doi:10.1182/blood.2020005289. |
Juan R González, Carlos Ruiz-Arenas, Alejandro Cáceres, Ignasi Morán, Marcos López-Sánchez, Lorena Alonso, Ignacio Tolosana, Marta Guindo-Martínez, Josep M Mercader, Tonu Esko, David Torrents, Josefa González, Luis A Pérez-Jurado. Polymorphic Inversions Underlie the Shared Genetic Susceptibility of Obesity-Related Diseases. Am J Hum Genet. 2020 Jun. doi:10.1016/j.ajhg.2020.04.017. |
Chen Hong, Sandra D Koser, Philip Ginsbach, Kortine Kleinheinz, Delia M Braun, Ruibin Xi, Rolf Kabbe, Roland Eils, Matthias Schlesner, Benedikt Brors, David TW Jones, Kadir C Akdemir, Eva G Alvarez, Adrian Baez-Ortega, Rameen Beroukhim, Paul C Boutros, David DL Bowtell, Kathleen H Burns, Peter J Campbell, Kin Chan, Ken Chen, Isidro Cortés-Ciriano, Ana Dueso-Barroso, Andrew J Dunford, Paul A Edwards, Xavier Estivill, Dariush Etemadmoghadam, Lars Feuerbach, J Lynn Fink, Milana Frenkel-Morgenstern, Dale W Garsed, Mark Gerstein, Dmitry A Gordenin, David Haan, James E Haber, Julian M Hess, Barbara Hutter, Marcin Imielinski, Young Seok Ju, Marat D Kazanov, Leszek J Klimczak, Youngil Koh, Jan O Korbel, Kiran Kumar, Eunjung Alice Lee, Jake June-Koo Lee, Yilong Li, Andy G Lynch, Geoff Macintyre, Florian Markowetz, Iñigo Martincorena, Alexander Martinez-Fundichely, Matthew Meyerson, Satoru Miyano, Hidewaki Nakagawa, Fabio CP Navarro, Stephan Ossowski, Peter J Park, John V Pearson, Montserrat Puiggròs, Karsten Rippe, Nicola D Roberts, Steven A Roberts, Bernardo Rodriguez-Martin, Steven E Schumacher, Ralph Scully, Mark Shackleton, Nikos Sidiropoulos, Lina Sieverling, Chip Stewart, David Torrents, Jose Tubio, Izar Villasante, Nicola Waddell, Jeremiah A Wala, Joachim Weischenfeldt, Lixing Yang, Xiaotong Yao, Sung-Soo Yoon, Jorge Zamora, Cheng-Zhong Zhang. Genomic footprints of activated telomere maintenance mechanisms in cancer Nature Communications. 2020 Feb; 11, 733. doi: 10.1038/s41467-022-32328-7 |
Rheinbay, E., Nielsen, M. M., Abascal, F., Wala, J. A., Shapira, O., Tiao, G., Hornshøj, H., Hess, J. M., Juul, R. I., Lin, Z., Feuerbach, L., Sabarinathan, R., Madsen, T., Kim, J., Mularoni, L., Shuai, S., Lanzós, A., Herrmann, C., Maruvka, Y. E., Shen, C., ... PCAWG Consortium (2020). Analyses of non-coding somatic drivers in 2,658 cancer whole genomes. Nature. 2020 Feb;578(7793):102-111. doi: 10.1038/s41586-020-1965-x. Epub 2020 Feb 5. PMID: 32025015; PMCID: PMC7054214. |
ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium. Pan-cancer analysis of whole genomes. Nature. 2020 Feb. doi: 10.1038/s41586-020-1969-6. |
Richard P Koche, Elias Rodriguez-Fos, Konstantin Helmsauer, Martin Burkert, Ian C MacArthur, Jesper Maag, Rocio Chamorro, Natalia Munoz-Perez, Montserrat Puiggròs, Heathcliff Dorado Garcia, Yi Bei, Claudia Röefzaad, Victor Bardinet, Annabell Szymansky, Annika Winkler, Theresa Thole, Natalie Timme, Katharina Kasack, Steffen Fuchs, Filippos Klironomos, Nina Thiessen, Eric Blanc, Karin Schmelz, Annette Künkele, Patrick Hundsdörfer, Carolina Rosswog, Jessica Theissen, Dieter Beule, Hedwig Deubzer, Sascha Sauer, Joern Toedling, Matthias Fischer, Falk Hertwig, Roland F Schwarz, Angelika Eggert, David Torrents, Johannes H Schulte, Anton G Henssen. Extrachromosomal circular DNA drives oncogenic genome remodeling in neuroblastoma. Nat Genet. 2020 Jan. doi: 10.1038/s41588-019-0547-z. |
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| 2019 |
| Helen E Speedy, Renée Beekman, Vicente Chapaprieta, Giulia Orlando, Philip J Law, David Martín-García, Jesús Gutiérrez-Abril, Daniel Catovsky, Sílvia Beà, Guillem Clot, Montserrat Puiggròs, David Torrents, Xose S Puente, James M Allan, Carlos López-Otín, Elias Campo, Richard S Houlston, José I Martín-Subero. Insight into genetic predisposition to chronic lymphocytic leukemia from integrative epigenomics. Nat Commun. 2019 Aug. doi:10.1038/s41467-019-11582-2. |
Irene Miguel-Escalada , Silvia Bonàs-Guarch , Inês Cebola , Joan Ponsa-Cobas , Julen Mendieta-Esteban , Goutham Atla , Biola M Javierre , Delphine M Y Rolando , Irene Farabella , Claire C Morgan , Javier García-Hurtado , Anthony Beucher , Ignasi Morán , Lorenzo Pasquali , Mireia Ramos-Rodríguez , Emil V R Appel , Allan Linneberg , Anette P Gjesing , Daniel R Witte , Oluf Pedersen , Niels Grarup , Philippe Ravassard , David Torrents , Josep M Mercader , Lorenzo Piemonti , Thierry Berney , Eelco J P de Koning , Julie Kerr-Conte , François Pattou , Iryna O Fedko , Leif Groop , Inga Prokopenko , Torben Hansen , Marc A Marti-Renom , Peter Fraser , Jorge Ferrer. Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes. Nat Genet. 2019 Jul. doi: 10.1038/s41588-019-0457-0. |
Aterido A, Cañete JD, Tornero J, Ferrándiz C, Pinto JA, Gratacós J, Queiró R, Montilla C, Torre-Alonso JC, Pérez-Venegas JJ, Fernández Nebro A, Muñoz-Fernández S, González CM, Roig D, Zarco P, Erra A, Rodríguez J, Castañeda S, Rubio E, Salvador G, Díaz-Torné C, Blanco R, Willisch Domínguez A, Mosquera JA, Vela P, Sánchez-Fernández SA, Corominas H, Ramírez J, de la Cueva P, Fonseca E, Fernández E, Puig L, Dauden E, Sánchez-Carazo JL, López-Estebaranz JL, Moreno D, Vanaclocha F, Herrera E, Blanco F, Fernández-Gutiérrez B, González A, Pérez-García C, Alperi-López M, Olivé Marques A, Martínez-Taboada V, González-Álvaro I, Sanmartí R, Tomás Roura C, García-Montero AC, Bonàs-Guarch S, Mercader JM, Torrents D, Codó L, Gelpí JL, López-Corbeto M, Pluma A, López-Lasanta M, Tortosa R, Palau N, Absher D, Myers R, Marsal S, Julià A. Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis. Ann Rheum Dis. 2019 Mar. doi: 10.1136/annrheumdis-2018-214158. |
Martín-Garcia D, Navarro A, Valdés-Mas R, Clot G, Gutiérrez-Abril J, Prieto M, Ribera-Cortada I, Woroniecka R, Rymkiewicz G, Bens S, de Leval L, Rosenwald A, Ferry JA, Hsi ED, Fu K, Delabie J, Weisenburger D, de Jong D, Climent F, O'Connor SJ, Swerdlow SH, Torrents D, Beltran S, Espinet B, González-Farré B, Veloza L, Costa D, Matutes E, Siebert R, Ott G, Quintanilla-Martinez L, Jaffe ES, López-Otín C, Salaverria I, Puente XS, Campo E, Beà S. CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1- mantle cell lymphoma. Blood. 2019 Feb. doi: 10.1182/blood-2018-07-862151. |
Nicole M Warrington, Robin N Beaumont, Momoko Horikoshi, Felix R Day, &empy;yvind Helgeland, Charles Laurin, Jonas Bacelis, Shouneng Peng, Ke Hao, Bjarke Feenstra, Andrew R Wood, Anubha Mahajan, Jessica Tyrrell, Neil R Robertson, N William Rayner, Zhen Qiao, Gunn-Helen Moen, Marc Vaudel, Carmen J Marsit, Jia Chen, Michael Nodzenski, Theresia M Schnurr, Mohammad H Zafarmand, Jonathan P Bradfield, Niels Grarup, Marjolein N Kooijman, Ruifang Li-Gao, Frank Geller, Tarunveer S Ahluwalia, Lavinia Paternoster, Rico Rueedi, Ville Huikari, Jouke-Jan Hottenga, Leo-Pekka Lyytikäinen, Alana Cavadino, Sarah Metrustry, Diana L Cousminer, Ying Wu, Elisabeth Thiering, Carol A Wang, Christian T Have, Natalia Vilor-Tejedor, Peter K Joshi, Jodie N Painter, Ioanna Ntalla, Ronny Myhre, Niina Pitkänen, Elisabeth M Van Leeuwen, Raimo Joro, Vasiliki Lagou, Rebecca C Richmond, Ana Espinosa, Sheila J Barton, Hazel M Inskip, John W Holloway, Loreto Santa-Marina, Xavier Estivill, Wei Ang, Julie A Marsh, Christoph Reichetzeder, Letizia Marullo, Berthold Hocher, Kathryn L Lunetta, Joanne M Murabito, Caroline L Relton, Manolis Kogevinas, Leda Chatzi, Catherine Allard, Luigi Bouchard, Marie-France Hivert, Ge Zhang, Louis J Muglia, Jani Heikkinen, Camilla S Morgen, Antoine HC Van Kampen, Barbera DC Van Schaik, Frank D Mentch, Claudia Langenberg, Jian’an Luan, Robert A Scott, Jing Hua Zhao, Gibran Hemani, Susan M Ring, Amanda J Bennett, Kyle J Gaulton, Juan Fernandez-Tajes, Natalie R Van Zuydam, Carolina Medina-Gomez, Hugoline G De Haan, Frits R Rosendaal, Zoltán Kutalik, Pedro Marques-Vidal, Shikta Das, Gonneke Willemsen, Hamdi Mbarek, Martina Müller-Nurasyid, Marie Standl, Emil VR Appel, Cilius E Fonvig, Caecilie Trier, Catharina EM Van Beijsterveldt, Mario Murcia, Mariona Bustamante, Sílvia Bonas-Guarch, David M Hougaard, Josep M Mercader, Allan Linneberg, Katharina E Schraut, Penelope A Lind, Sarah E Medland, Beverley M Shields, Bridget A Knight, Jin-Fang Chai, Kalliope Panoutsopoulou, Meike Bartels, Friman Sánchez, Jakob Stokholm, David Torrents, Rebecca K Vinding, Sara M Willems, Mustafa Atalay, Bo L Chawes, Peter Kovacs, Inga Prokopenko, Marcus A Tuke, Hanieh Yaghootkar, Katherine S Ruth, Samuel E Jones, Po-Ru Loh, Anna Murray, Michael N Weedon, Anke Tönjes, Michael Stumvoll, Kim F Michaelsen, Aino-Maija Eloranta, Timo A Lakka, Cornelia M Van Duijn, Wieland Kiess, Antje Körner, Harri Niinikoski, Katja Pahkala, Olli T Raitakari, Bo Jacobsson, Eleftheria Zeggini, George V Dedoussis, Yik-Ying Teo, Seang-Mei Saw, Grant W Montgomery, Harry Campbell, James F Wilson. Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. Nature Genetics 2019, May; 51, 804–814. doi: 10.1038/s41588-019-0403-1. |
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| 2018 |
| Iván Galván-Femenía, Marta Guindo, Xavier Duran, Sílvia Calabuig-Fariñas, Josep Maria Mercader, Jose Luis Ramirez, Rafael Rosell, David Torrents, Anna Carreras, Takashi Kohno, Eloisa Jantus-Lewintre, Carlos Camps, Manuel Perucho, Lauro Sumoy, Jun Yokota, Rafael de Cid. Genomic profiling in advanced stage non-small-cell lung cancer patients with platinum-based chemotherapy identifies germline variants with prognostic value in SMYD2. ScienceDirect. 2018 Feb. doi: https://doi.org/10.1016/j.ctarc.2018.02.003. |
Sadler JBA, Wenzel DM, Williams LK, Guindo-Martínez M, Alam SL, Mercader JM, Torrents D, Ullman KS, Sundquist WI, Martin-Serrano J. A cancer-associated polymorphism in ESCRT-III disrupts the abscission checkpoint and promotes genome instability. Proc Natl Acad Sci U S A. 2018 Sep. doi: 10.1073/pnas.1805504115. |
Galván-Femenía I, Obón-Santacana M, Piñeyro D, Guindo-Martinez M, Duran X, Carreras A, Pluvinet R, Velasco J, Ramos L, Aussó S, Mercader JM, Puig L, Perucho M, Torrents D, Moreno V, Sumoy L, de Cid R. Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. J Med Genet. 2018 Nov. doi: 10.1136/jmedgenet-2018-105437. |
Waage J, Standl M, Curtin JA, Jessen LE, Thorsen J, Tian C, Schoettler N; andMe Research Team; AAGC collaborators, Flores C, Abdellaoui A, Ahluwalia TS, Alves AC, Amaral AFS, Antó JM, Arnold A, Barreto-Luis A, Baurecht H, van Beijsterveldt CEM, Bleecker ER, Bonàs-Guarch S, Boomsma DI, Brix S, Bunyavanich S, Burchard EG, Chen Z, Curjuric I, Custovic A, den Dekker HT, Dharmage SC, Dmitrieva J, Duijts L, Ege MJ, Gauderman WJ, Georges M, Gieger C, Gilliland F, Granell R, Gui H, Hansen T, Heinrich J, Henderson J, Hernandez-Pacheco N, Holt P, Imboden M, Jaddoe VWV, Jarvelin MR, Jarvis DL, Jensen KK, Jónsdóttir I, Kabesch M, Kaprio J, Kumar A, Lee YA, Levin AM, Li X, Lorenzo-Diaz F, Melén E, Mercader JM, Meyers DA, Myers R, Nicolae DL, Nohr EA, Palviainen T, Paternoster L, Pennell CE, Pershagen G, Pino-Yanes M, Probst-Hensch NM, Rüschendorf F, Simpson A, Stefansson K, Sunyer J, Sveinbjornsson G, Thiering E, Thompson PJ, Torrent M, Torrents D, Tung JY, Wang CA, Weidinger S, Weiss S, Willemsen G, Williams LK, Ober C, Hinds DA, Ferreira MA, Bisgaard H, Strachan DP, Bjønnelykke K. Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis. Nat Genet. 2018 Aug. doi: 10.1038/s41588-018-0157-1. |
Julià A, López-Longo FJ, Pérez Venegas JJ, Bonàs-Guarch S, Olivé À, Andreu JL, Aguirre-Zamorano MÁ, Vela P, Nolla JM, de la Fuente JLM, Zea A, Pego-Reigosa JM, Freire M, Díez E, Rodríguez-Almaraz E, Carreira P, Blanco R, Taboada VM, López-Lasanta M, Corbeto ML, Mercader JM, Torrents D, Absher D, Marsal S, Fernández-Nebro A. Genome-wide association study meta-analysis identifies five new loci for systemic lupus erythematosus. Arthritis Res Ther. 2018 May. doi: 10.1186/s13075-018-1604-1. |
Bullich G, Domingo-Gallego A, Vargas I, Ruiz P, Lorente-Grandoso L, Furlano M, Fraga G, Madrid Á, Ariceta G, Borregán M, Piñero-Fernández JA, Rodríguez-Peña L, Ballesta-Martínez MJ, Llano-Rivas I, Meñica MA, Ballarín J, Torrents D, Torra R, Ars E. A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases. Kidney Int. 2018 Aug. doi: 10.1016/j.kint.2018.02.027 |
Beekman R, Chapaprieta V, Russiñol N, Vilarrasa-Blasi R, Verdaguer-Dot N, Martens JHA, Duran-Ferrer M, Kulis M, Serra F, Javierre BM, Wingett SW, Clot G, Queirós AC, Castellano G, Blanc J, Gut M, Merkel A, Heath S, Vlasova A, Ullrich S, Palumbo E, Enjuanes A, Martín-García D, Beà S, Pinyol M, Aymerich M, Royo R, Puiggros M, Torrents D, Datta A, Lowy E, Kostadima M, Roller M, Clarke L, Flicek P, Agirre X, Prosper F, Baumann T, Delgado J, López-Guillermo A, Fraser P, Yaspo ML, Guigó R, Siebert R, Martí-Renom MA, Puente XS, López-Otín C, Gut I, Stunnenberg HG, Campo E, Martin-Subero JI,. The reference epigenome and regulatory chromatin landscape of chronic lymphocytic leukemia. Nat Med. 2018 Jun. doi: 10.1038/s41591-018-0028-4. |
Bonàs-Guarch S, Guindo-Martínez M, Miguel-Escalada I, Grarup N, Sebastian D, Rodriguez-Fos E, Sánchez F, Planas-Fèlix M, Cortes-Sánchez P, González S, Timshel P, Pers TH, Morgan CC, Moran I, Atla G, González JR, Puiggròs M, Martí J, Andersson EA, Díaz C, Badia RM, Udler M, Leong A, Kaur V, Flannick J, Jørgensen T, Linneberg A, Jørgensen ME, Witte DR, Christensen C, Brandslund I, Appel EV, Scott RA, Luan J, Langenberg C, Wareham NJ, Pedersen O, Zorzano A, Florez JC, Hansen T, Ferrer J, Mercader JM, Torrents D. Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes. Nat Commun. 2018 Jan 22;9(1):321. doi: 10.1038/s41467-017-02380-9. |
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| 2017 |
| Mercader JM, Liao RG, Bell AD, Dymek Z, Estrada K, Tukiainen T, Huerta-Chagoya A, Moreno-Macías H, Jablonski KA, Hanson RL, Walford GA, Moran I, Chen L, Agarwala V, Ordoñez-Sánchez ML, Rodríguez-Guillen R, Rodríguez-Torres M, Segura-Kato Y, García-Ortiz H, Centeno-Cruz F, Barajas-Olmos F, Caulkins L, Puppala S, Fontanillas P, Williams AL, Bonàs-Guarch S, Hartl C, Ripke S,; Diabetes Prevention Program Research Group, Tooley K, Lane J, Zerrweck C, Martínez-Hernández A, Córdova EJ, Mendoza-Caamal E, Contreras-Cubas C, González-Villalpando ME, Cruz-Bautista I, Muñoz-Hernández L, Gómez-Velasco D, Alvirde U, Henderson BE, Wilkens LR, Le Marchand L, Arellano-Campos O, Riba L, Harden M; Broad Genomics Platform, Gabriel S; TD-GENES Consortium, Abboud HE, Cortes ML, Revilla-Monsalve C, Islas-Andrade S, Soberon X, Curran JE, Jenkinson CP, DeFronzo RA, Lehman DM, Hanis CL, Bell GI, Boehnke M, Blangero J, Duggirala R, Saxena R, MacArthur D, Ferrer J, McCarroll SA, Torrents D, Knowler WC, Baier LJ, Burtt N, González-Villalpando C, Haiman CA, Aguilar-Salinas CA, Tusié-Luna T, Flannick J, Jacobs SBR, Orozco L, Altshuler D, Florez JC,; SIGMA TD Genetics Consortium. A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes. Diabetes. 2017 Nov;66(11):2903-2914. doi: 10.2337/db17-0187. Epub 2017 Aug 24. |
Henssen AG, Koche R, Zhuang J, Jiang E, Reed C, Eisenberg A, Still E, MacArthur IC, Rodríguez-Fos E, Gonzalez S, Puiggròs M, Blackford AN, Mason CE, de Stanchina E, Gönen M, Emde AK, Shah M, Arora K, Reeves C, Socci ND, Perlman E, Antonescu CR, Roberts CWM, Steen H, Mullen E, Jackson SP, Torrents D, Weng Z, Armstrong SA, Kentsis A. Erratum: PGBD5 promotes site-specific oncogenic mutations in human tumors. Nat Genet. 2017 Sep 27;49(10):1558. doi: 10.1038/ng1017-1558b. |
Chinnaswamy S, Wardzynska A, Pawelczyk M, Makowska J, Skaaby T, Mercader JM, Ahluwalia TS, Grarup N, Guindo-Martinez M, Bisgaard H, Torrents D, Linneberg A, Bønnelykke K, Kowalski ML. A functional IFN-λ4-generating DNA polymorphism could protect older asthmatic women from aeroallergen sensitization and associate with clinical features of asthma. Sci Rep. 2017 Sep 5;7(1):10500. doi: 10.1038/s41598-017-10467-y. |
Bernardo Rodriguez-Martin, Eva G. Alvarez, Adrian Baez-Ortega, Jorge Zamora, Fran Supek, Jonas Demeulemeester, Martin Santamarina, Young Seok Ju, Javier Temes, Daniel Garcia-Souto, Harald Detering, Yilong Li, Jorge Rodriguez-Castro, Ana Dueso-Barroso, Alicia L. Bruzos, Stefan C. Dentro, Miguel G. Blanco, Gianmarco Contino, Daniel Ardeljan, Marta Tojo, Nicola D. Roberts, Sonia Zumalave, Paul A. W. Edwards, Joachim Weischenfeldt, Montserrat Puiggros, Zechen Chong, Ken Chen, Eunjung Alice Lee, Jeremiah A. Wala, Keiran Raine, Adam Butler, Sebastian M. Waszak, Fabio C. P. Navarro, Steven E. Schumacher, Jean Monlong, Francesco Maura, Niccolo Bolli, Guillaume Bourque, Mark Gerstein, Peter J. Park, David Wedge, Rameen Berroukhim, David Torrents, Jan O. Korbel, Inigo Martincorena, Rebecca C. Fitzgerald, Peter Van Loo, Haig H. Kazazian, Kathleen H. Burns, Peter J. Campbell, Jose M. C. Tubio, PCAWG Structural Variation Working Group, ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Net. Pan-cancer analysis of whole genomes reveals driver rearrangements promoted by LINE-1 retrotransposition in human tumours. doi: https://doi.org/10.1101/179705 |
Christina K. Yung, Brian D. O'Connor, Sergei Yakneen, Junjun Zhang, Kyle Ellrott, Kortine Kleinheinz, Naoki Miyoshi, Keiran M. Raine, Romina Royo, Gordon B. Saksena, Matthias Schlesner, Solomon I. Shorser, Miguel Vazquez, Joachim Weischenfeldt, Denis Yuen, Adam P. Butler, Brandi N. Davis-Dusenbery, Roland Eils, Vincent Ferretti, Robert L. Grossman, Olivier Harismendy, Youngwook Kim, Hidewaki Nakagawa, Steven J. Newhouse, David Torrents, Lincoln D. Stein, - PCAWG Technical Working Group Large-Scale Uniform Analysis of Cancer Whole Genomes in Multiple Computing Environments. BioRxiv, 1-45. https://doi.org/10.1016/S0140-6736(99)80012-9 |
Wu H, Esteve E, Tremaroli V, Khan MT, Caesar R, Mannerås-Holm L, Ståhlman M, Olsson LM, Serino M, Planas-Fèlix M, Xifra G, Mercader JM, Torrents D, Burcelin R, Ricart W, Perkins R, Fernàndez-Real JM, Bäckhed F. Metformin alters the gut microbiome of individuals with treatment-naive type 2 diabetes, contributing to the therapeutic effects of the drug. Nat Med. 2017 May 22. doi: 10.1038/nm.4345. |
Henssen AG, Koche R, Zhuang J, Jiang E, Reed C, Eisenberg A, Still E, MacArthur IC, Rodríguez-Fos E, Gonzalez S, Puiggròs M, Blackford AN, Mason CE, de Stanchina E, Gönen M, Emde AK, Shah M, Arora K, Reeves C, Socci ND, Perlman E, Antonescu CR, Roberts CWM, Steen H, Mullen E, Jackson SP, Torrents D, Weng Z, Armstrong SA, Kentsis A. PGBD5 promotes site-specific oncogenic mutations in human tumors. Nat Genet. 2017 May 15. doi: 10.1038/ng.3866. |
Carreras-Badosa G, Bonmatí A, Ortega FJ, Mercader JM, Guindo-Martiacute;nez M, Torrents D,, Prats-Puig A, Martinez-Calcerrada JM, DE Zegher F, Ib&aacuta;ñez L, Fernandez-Real JM, Lopez-Bermejo A, Bassols J. DYSREGULATION OF PLACENTAL MIRNA IN MATERNAL OBESITY IS ASSOCIATED WITH PRE-AND POST-NATAL GROWTH. J Clin Endocrinol Metab. 2017 Mar 20. doi: 10.1210/jc.2017-00089. |
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| 2016 |
| José María Fernández, Victor de la Torre, David Richardson, Romina Royo, Montserrat Puiggròs, Valentí Moncunill, Stamatina Fragkogianni, Laura Clarke, BLUEPRINT Consortium6Paul Flicek, Daniel Rico, David Torrents, Enrique Carrillo de Santa Pau, Alfonso Valencia. The BLUEPRINT Data Analysis Portal. Cell Systems. November 15, 2016; DOI: http://dx.doi.org/10.1016/j.cels.2016.10.021. |
Stunnenberg HG; International Human Epigenome Consortium, Hirst. The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery. Cell. Nov 17;167(5):1145-1149. doi: 10.1016/j.cell.2016.11.007. |
Horikoshi M, Beaumont RN, Day FR, Warrington NM, Kooijman MN, Fernandez-Tajes J, Feenstra B, van Zuydam NR, Gaulton KJ, Grarup N, Bradfield JP, Strachan DP, Li-Gao R, Ahluwalia TS, Kreiner E, Rueedi R, Lyytikäinen LP, Cousminer DL, Wu Y, Thiering E, Wang CA, Have CT, Hottenga JJ, Vilor-Tejedor N, Joshi PK, Boh ET, Ntalla I, Pitkänen N, Mahajan A, van Leeuwen EM, Joro R, Lagou V, Nodzenski M, Diver LA, Zondervan KT, Bustamante M, Marques-Vidal P, Mercader JM, Bennett AJ, Rahmioglu N, Nyholt DR, Ma RC, Tam CH, Tam WH; CHARGE Consortium Hematology Working Group, Ganesh SK, van Rooij FJ, Jones SE, Loh PR, Ruth KS, Tuke MA, Tyrrell J, Wood AR, Yaghootkar H, Scholtens DM, Paternoster L, Prokopenko I, Kovacs P, Atalay M, Willems SM, Panoutsopoulou K, Wang X, Carstensen L, Geller F, Schraut KE, Murcia M, van Beijsterveldt CE, Willemsen G, Appel EV, Fonvig CE, Trier C, Tiesler CM, Standl M, Kutalik Z, Bonàs-Guarch S, Hougaard DM, Sánchez F, Torrents D, Waage J, Hollegaard MV, de Haan HG, Rosendaal FR, Medina-Gomez C, Ring SM, Hemani G, McMahon G, Robertson NR, Groves CJ, Langenberg C, Luan J, Scott RA, Zhao JH, Mentch FD, MacKenzie SM, Reynolds RM; Early Growth Genetics (EGG) Consortium, Lowe WL, Tönjes A, Stumvoll M, Lindi V, Lakka TA, van Duijn CM, Kiess W, Körner A, Sørensen TI, Niinikoski H, Pahkala K, Raitakari OT, Zeggini E, Dedoussis GV, Teo YY, Saw SM, Melbye M, Campbell H, Wilson JF, Vrijheid M, de Geus EJ, Boomsma DI, Kadarmideen HN, Holm JC, Hansen T, Sebert S, Hattersley AT, Beilin LJ, Newnham JP, Pennell CE, Heinrich J, Adair LS, Borja JB, Mohlke KL, Eriksson JG, Widén E, Kähönen M, Viikari JS, Lehtimäki T, Vollenweider P, Bønnelykke K, Bisgaard H, Mook-Kanamori DO, Hofman A, Rivadeneira F, Uitterlinden AG, Pisinger C, Pedersen O, Power C, Hyppönen E, Wareham NJ, Hakonarson H, Davies E, Walker BR, Jaddoe VW, Järvelin MR, Grant SF, Vaag AA, Lawlor DA, Frayling TM, Smith GD, Morris AP, Ong KK, Felix JF, Timpson NJ, Perry JR, Evans DM, McCarthy MI, Freathy RM. Genome-wide associations for birth weight and correlations with adult disease. Nature. 2016 Jan 28;7:10531. doi: 10.1038/nature19806. |
Imamura M, Takahashi A, Yamauchi T, Hara K, Yasuda K, Grarup N, Zhao W, Wang X, Huerta-Chagoya A, Hu C, Moon S, Long J, Kwak SH, Rasheed A, Saxena R, Ma RC, Okada Y, Iwata M, Hosoe J, Shojima N, Iwasaki M, Fujita H, Suzuki K, Danesh J, Jørgensen T, Jørgensen ME, Witte DR, Brandslund I, Christensen C, Hansen T, Mercader JM, Flannick J, Moreno-Macías H, Burtt NP, Zhang R, Kim YJ, Zheng W, Singh JR, Tam CH, Hirose H, Maegawa H, Ito C, Kaku K, Watada H, Tanaka Y, Tobe K, Kawamori R, Kubo M, Cho YS, Chan JC, Sanghera D, Frossard P, Park KS, Shu XO, Kim BJ, Florez JC, Tusié-Luna T, Jia W, Tai ES, Pedersen O, Saleheen D, Maeda S, Kadowaki T. Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes. Nat Commun. 2016 Jan 28;7:10531. doi: 10.1038/ncomms10531. |
Heyn H, Vidal E, Ferreira HJ, Vizoso M, Sayols S, Gomez A, Moran S, Boque-Sastre R, Guil S, Martinez-Cardus A, Lin CY, Royo R, Sanchez-Mut JV, Martinez R, Gut M, Torrents D, Orozco M, Gut I, Young RA, Esteller M. Epigenomic analysis detects aberrant super-enhancer DNA methylation in human cancer. Genome Biol. 2016 Jan 26;17(1):11. doi: 10.1186/s13059-016-0879-2. |
Eiler A, Mondav R, Sinclair L, Fernandez-Vidal L, Scofield DG, Schwientek P, Martinez-Garcia M, Torrents D, McMahon KD, Andersson SG, Stepanauskas R, Woyke T, Bertilsson S. Tuning fresh: radiation through rewiring of central metabolism in streamlined bacteria. ISME J. 2016 Jan 19. doi: 10.1038/ismej.2015.260. |
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| 2015 |
| Alioto TS, Buchhalter I, Derdak S, Hutter B, Eldridge MD, Hovig E, Heisler LE, Beck TA, Simpson JT, Tonon L, Sertier AS, Patch AM, Jäger N, Ginsbach P, Drews R, Paramasivam N, Kabbe R, Chotewutmontri S, Diessl N, Previti C, Schmidt S, Brors B, Feuerbach L, Heinold M, Gröbner S, Korshunov A, Tarpey PS, Butler AP, Hinton J, Jones D, Menzies A, Raine K, Shepherd R, Stebbings L, Teague JW, Ribeca P, Giner FC, Beltran S, Raineri E, Dabad M, Heath SC, Gut M, Denroche RE, Harding NJ, Yamaguchi TN, Fujimoto A, Nakagawa H, Quesada V, Valdés-Mas R, Nakken S, Vodák D, Bower L, Lynch AG, Anderson CL, Waddell N, Pearson JV, Grimmond SM, Peto M, Spellman P, He M, Kandoth C, Lee S, Zhang J, Létourneau L, Ma S, Seth S, Torrents D, Xi L, Wheeler DA, López-Otín C, Campo E, Campbell PJ, Boutros PC, Puente XS, Gerhard DS, Pfister SM, McPherson JD, Hudson TJ, Schlesner M, Lichter P, Eils R, Jones DT, Gut IG. A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing. Nat Commun. 2015 Dec 9;6:10001. doi: 10.1038/ncomms10001. |
Carreras-Badosa G, Bonmatí A, Ortega FJ, Mercader JM, Guindo-Martínez M, Torrents D, Prats-Puig A, Martinez-Calcerrada JM, Platero-Gutierrez E, De Zegher F, Ibáñez L, Fernandez-Real JM, Lopez-Bermejo A, Bassols J. Altered Circulating miRNA Expression Profile in Pregestational and Gestational Obesity. J Clin Endocrinol Metab. 2015 Nov;100(11):E1446-56. doi: 10.1210/jc.2015-2872. Epub 2015 Sep 25. |
Ortega FJ, Mercader JM, Moreno-Navarrete JM, Nonell L, Puigdecanet E, Rodriquez-Hermosa JI, Rovira O, Xifra G, Guerra E, Moreno M, Mayas D, Moreno-Castellanos N, Fernández-Formoso JA, Ricart W, Tinahones FJ, Torrents D, Malagón MM, Fernández-Real JM. Surgery-Induced Weight Loss Is Associated With the Downregulation of Genes Targeted by MicroRNAs in Adipose Tissue. J Clin Endocrinol Metab 2015 Nov;100(11):E1467-76. doi: 10.1210/jc.2015-2357. Epub 2015 Aug 7. |
Xose S. Puente, Silvia Beà, Rafael Valdés-Mas, Neus Villamor, Jesús Gutiérrez-Abril, José I. Martín-Subero, Marta Munar, Carlota Rubio-Pérez, Pedro Jares, Marta Aymerich, Tycho Baumann, Renée Beekman, Laura Belver, Anna Carrio, Giancarlo Castellano, Guillem Clot, Enrique Colado, Dolors Colomer, Dolors Costa, Julio Delgado, Anna Enjuanes, Xavier Estivill, Adolfo A. Ferrando, Josep L. Gelpí, Blanca González, Santiago González, Marcos González, Marta Gut, Jesús M. Hernández-Rivas, Mónica López-Guerra, David Martín-García, Alba Navarro, Pilar Nicolás, Modesto Orozco, Ángel R. Payer, Magda Pinyol, David G. Pisano, Diana A. Puente, Ana C. Queirós, Víctor Quesada, Carlos M. Romeo-Casabona, Cristina Royo, Romina Royo, María Rozman, Nuria Russiñol, Itziar Salaverría, Kostas Stamatopoulos, Hendrik G. Stunnenberg, David Tamborero, María J. Terol, Alfonso Valencia, Nuria López-Bigas, David Torrents, Ivo Gut, Armando López-Guillermo, Carlos López-Otín & Elías Campo. Non-coding recurrent mutations in chronic lymphocytic leukaemia. Nature 2015; doi:10.1038/nature14666. |
Ortega FJ, Moreno M, Mercader JM, Moreno-Navarrete JM, Fuentes-Batllevell N, Sabater M, Ricart W, Fern´ndez-Real JM. Inflammation triggers specific microRNA profiles in human adipocytes and macrophages and in their supernatants. Clin Epigenetics 2015 Apr 24;7(1):49. doi: 10.1186/s13148-015-0083-3. |
| |
| 2014 |
| Guillén Y, Rius N, Delprat A, Williford A, Muyas F, Puig M, Casillas S, Ràmia M, Egea R, Negre B, Mir G, Camps J, Moncunill V, Ruiz-Ruano FJ, Cabrero J, de Lima LG, Dias GB, Ruiz JC, Kapusta A, Garcia-Mas J, Gut M, Gut IG, Torrents D, Camacho JP, Kuhn GC, Feschotte C, Clark AG, Betrán E, Barbadilla A, Ruiz A. Genomics of ecological adaptation in cactophilic Drosophila. Genome Biol 2014 Dec 31;7(1):349-66. doi: 10.1093/gbe/evu291. |
Moncunill V, Gonzalez S, Beá S, Andrieux LO, Salaverria I, Royo C, Martinez L, Puiggròs M, Segura-Wang M, St ütz AM, Navarro A, Royo R, Gelpí, JLL, Gut IG, López-Otín C, Orozco M, Korbel JO, Campo E, Puente XS & Torrents D. Comprehensive characterization of complex structural variation in cancer by directly comparing normal and tumor genome sequence reads. Nature Biotechnology 2014; doi:10.1038/nbt.3027. |
SIGMA Type 2 Diabetes Consortium, Estrada K, Aukrust I, Bjørkhaug L, Burtt NP, Mercader JM, García-Ortiz H, Huerta-Chagoya A, Moreno-Macías H, Walford G, Flannick J, Williams AL, Gómez-Vázquez MJ, Fernandez-Lopez JC, Martínez-Hernández A, Centeno-Cruz F, Mendoza-Caamal E, Revilla-Monsalve C, Islas-Andrade S, Córdova EJ, Soberón X, González-Villalpando ME, Henderson E, Wilkens LR, Le Marchand L, Arellano-Campos O, Ordóñez-Sánchez ML, Rodríguez-Torres M, Rodríguez-Guillén R, Riba L, Najmi LA, Jacobs SB, Fennell T, Gabriel S, Fontanillas P, Hanis CL, Lehman DM, Jenkinson CP, Abboud HE, Bell GI, Cortes ML, Boehnke M, González-Villalpando C, Orozco L, Haiman CA, Tusié-Luna T, Aguilar-Salinas CA, Altshuler D, Njølstad PR, Florez JC, MacArthur DG. Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population. JAMA 2014 Jun 11;311(22):2305-14. doi: 10.1001/jama.2014.6511. |
Parcerisas A, Rubio SE, Muhaisen A, Gómez-Ramos A, Pujadas L, Puiggròs M, Rossi D, Ureña J, Burgaya F, Pascual M, Torrents D, Rábano A, Avila J, Soriano E. Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease. J Alzheimers Dis. 2014 Jan 1;42(4):1357-82. doi: 10.3233/JAD-140891. |
Fernandez L, Mercader JM, Planas-Fèlix M, Torrents D. Adaptation to environmental factors shapes the organization of regulatory regions in microbial communities. BMC Genomics 2014 Oct 8;15(1):877. doi: 10.1186/1471-2164-15-877. |
Bønnelykke K, Sleiman P, Nielsen K, Kreiner-Møller E, Mercader JM, Belgrave D, den Dekker HT, Husby A, Sevelsted A, Faura-Tellez G, Mortensen LJ, Paternoster L, Flaaten R, Mølgaard A, Smart DE, Thomsen PF, Rasmussen MA, Bonàs-Guarch S, Holst C, Nohr EA, Yadav R, March ME, Blicher T, Lackie PM, Jaddoe VW, Simpson A, Holloway JW, Duijts L, Custovic A, Davies DE, Torrents D, Gupta R, Hollegaard MV, Hougaard DM, Hakonarson H, Bisgaard H. A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations. Nat Genet 2014 Jan;46(1):51-5 |
Ortega FJ, Mercader JM, Moreno-Navarrete JM, Rovira O, Guerra E, Esteve E, Xifra G, Marínez C, Ricart W, Rieusset J, Rome S, Karczewska-Kupczewska M, Straczkowski M, Fernández-Real JM. Profiling of Circulating MicroRNAs Reveals Common MicroRNAs Linked to Type 2 Diabetes That Change With Insulin Sensitization. Diabetes Care 2014 May;37(5):1375-83. doi: 10.2337/dc13-1847. Epub 2014 Jan 29. |
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| 2013 |
| Durán E, Djebali S, González S, Flores O, Mercader JM, Guigó R, Torrents D, Soler-López M, Orozco M. Unravelling the hidden DNA structural/physical code provides novel insights on promoter location. Nucleic Acids Res 2013 Aug;41(15):7220-30 |
Ortega FJ, Mercader JM, Catalán V, Moreno-Navarrete JM, Pueyo N, Sabater M, Gómez-Ambrosi J, Anglada R, Fernández-Formoso JA, Ricart W, Frühbeck G, Fernández-Real JM. Targeting the circulating microRNA signature of obesity. Clin Chem 2013 May;59(5):781-92. doi: 10.1373/clinchem.2012.195776. Epub 2013 Feb 8. |
Pueyo N, Ortega FJ, Mercader JM, Moreno-Navarrete JM, Sabater M, Bonás S, Botas P, Delgado E, Ricart W, Martinez-Larrad MT, Serrano-Ríos M, Torrents D, Fernández-Real JM. Common genetic variants of surfactant protein-D (SP-D) are associated with type 2 diabetes. PLoS One 2013;8(4):e60468 |
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| 2012 |
| Josep M. Mercader, Montserrat Puiggròs, Ayellet V. Segrè, Evarist Planet, Eleonora Sorianello, David Sebastian, Sergio Rodriguez-Cuenca, Vicent Ribas, Sílvia Bonàs-Guarch, Sorin Draghici, Chenjing Yang, Sílvia Mora, Antoni Vidal-Puig, [...], David Torrents. Identification of Novel Type 2 Diabetes Candidate Genes Involved in the Crosstalk between the Mitochondrial and the Insulin Signaling Systems. PLoS Genet 2012 Dec 06;8(12):e1003046 |
Tomato Genome Consortium The tomato genome sequence provides insights into fleshy fruit evolution. Nature 2012 May 30;485(7400):635-41 |
González, S., Montserrat-Sentís B, Sánchez F, Puiggròs M, Blanco E, Ramirez A, Torrents D. ReLA, a local alignment search tool for the identification of distal and proximal gene regulatory regions and their conserved transcription factor binding sites. Bioinformatics 2012 Mar 15;28(6):763-70 Run ReLA |
Adams D, Altucci L, Antonarakis SE, Ballesteros J, Beck S, Bird A, Bock C, Boehm B, Campo E, Caricasole A, Dahl F, Dermitzakis ET, Enver T, Esteller M, Estivill X, Ferguson-Smith A, Fitzgibbon J, Flicek P, Giehl C, Graf T, Grosveld F, Guigo R, Gut I, Helin K, Jarvius J, Küppers R, Lehrach H, Lengauer T, Lernmark Å, Leslie D, Loeffler M, Macintyre E, Mai A, Martens JH, Minucci S, Ouwehand WH, Pelicci PG, Pendeville H, Porse B, Rakyan V, Reik W, Schrappe M, Schübeler D, Seifert M, Siebert R, Simmons D, Soranzo N, Spicuglia S, Stratton M, Stunnenberg HG, Tanay A, Torrents D, Valencia A, Vellenga E, Vingron M, Walter J, Willcocks S. BLUEPRINT to decode the epigenetic signature written in blood. Nature biotechnology 2012 Mar 7;30(3):224-6 |
Mercader JM, González JR, Lozano JJ, Bak M, Kauppinen S, Sumoy L, Dierssen M, Fernández-Aranda F, Visa J, Gratacòs M, Estivill X. Aberrant brain microRNA target and miRISC gene expression in the anx/anx anorexia mouse model. Gene 2012 Apr 15;497(2):181-90. doi: 10.1016/j.gene.2012.01.057. Epub 2012 Jan 30. |
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| 2011 |
| Puente XS, Pinyol M, Quesada V, Conde L, Ordóñez GR, Villamor N, Escaramis G, Jares P, Beà S, González-Díaz M, Bassaganyas L, Baumann T, Juan M, López-Guerra M, Colomer D, Tubío JM, López C, Navarro A, Tornador C, Aymerich M, Rozman M, Hernández JM, Puente DA, Freije JM, Velasco G, Gutiérrez-Fernández A, Costa D, Carrió A, Guijarro S, Enjuanes A, Hernández L, Yagüe J, Nicolás P, Romeo-Casabona CM, Himmelbauer H, Castillo E, Dohm JC, de Sanjosé S, Piris MA, de Alava E, San Miguel J, Royo R, Gelpí JL, Torrents D, Orozco M, Pisano DG, Valencia A, Guigó R, Bayés M, Heath S, Gut M, Klatt P, Marshall J, Raine K, Stebbings LA, Futreal PA, Stratton MR, Campbell PJ, Gut I, López-Guillermo A, Estivill X, Montserrat E, López-Otín C, Campo E. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature 2011 Jun 5;475(7354):101-5 |
Arumugam M, Raes J, Pelletier E, Le Paslier D, Yamada T, Mende DR, Fernandes GR, Tap J, Bruls T, Batto JM, Bertalan M, Borruel N, Casellas F, Fernandez L, Gautier L, Hansen T, Hattori M, Hayashi T, Kleerebezem M, Kurokawa K, Leclerc M, Levenez F, Manichanh C, Nielsen HB, Nielsen T, Pons N, Poulain J, Qin J, Sicheritz-Ponten T, Tims S, Torrents D, Ugarte E, Zoetendal EG, Wang J, Guarner F, Pedersen O, de Vos WM, Brunak S, Doré J; MetaHIT Consortium, Antolín M, Artiguenave F, Blottiere HM, Almeida M, Brechot C, Cara C, Chervaux C, Cultrone A, Delorme C, Denariaz G, Dervyn R, Foerstner KU, Friss C, van de Guchte M, Guedon E, Haimet F, Huber W, van Hylckama-Vlieg J, Jamet A, Juste C, Kaci G, Knol J, Lakhdari O, Layec S, Le Roux K, Maguin E, Mérieux A, Melo Minardi R, M'rini C, Muller J, Oozeer R, Parkhill J, Renault P, Rescigno M, Sanchez N, Sunagawa S, Torrejon A, Turner K, Vandemeulebrouck G, Varela E, Winogradsky Y, Zeller G, Weissenbach J, Ehrlich SD, Bork P. Enterotypes of the human gut microbiome. Nature 2011 May 12;473(7346):174-80 |
Fernández M, Caballero J, Fernández L, Sarai A. Genetic algorithm optimization in drug design QSAR: Bayesian-regularized genetic neural networks (BRGNN) and genetic algorithm-optimized support vectors machines (GA-SVM). Molecular diversity 2011 Feb;15(1):269-89 |
Rossi D, Pedrali A, Urbano M, Gaggeri R, Serra M, Fernández L, Fernández M, Caballero J, Ronsisvalle S, Prezzavento O, Schepmann D, Wuensch B, Peviani M, Curti D, Azzolina O, Collina S. Identification of a potent and selective σ1 receptor agonist potentiating NGF-induced neurite outgrowth in PC12 cells. Bioorganic & medicinal chemistry 2011 Nov 1;19(21):6210-24 |
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| 2010 |
| Fernández-Real JM, Mercader JM, Ortega FJ, Moreno-Navarrete JM, López-Romero P, Ricart W. Transferrin receptor-1 gene polymorphisms are associated with type 2 diabetes. European journal of clinical investigation 2010 Jul;40(7):600-7 |
Ballana E, Senserrich J, Pauls E, Faner R, Mercader JM, Uyttebroeck F, Palou E, Mena MP, Grau E, Clotet B, Ruiz L, Telenti A, Ciuffi A, Esté JA. ZNRD1 (zinc ribbon domain-containing 1) is a host cellular factor that influences HIV-1 replication and disease progression. Clinical infectious diseases 2010 Apr 1;50(7):1022-32 |
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| 2008 |
| Quijano, C., Tomancak P, Lopez-Marti J, Suyama M, Bork P, Milan M, Torrents D, Manzanares M. Selective maintenance of Drosophila tandemly-arranged duplicated genes. Genome biology 2008 9(12):R176 |
Casagrande, F., Ratera M, Schenk AD, Chami M, Valencia E, Lopez JM, Torrents D, Engel A, Palacin M, Fotiadis D. Projection structure of a member of the amino acid/polyamine/organocation transporter superfamily. The Journal of biological chemistry 2008 Nov 28;283(48):33240-8 |
Casals, F., Ferrer-Admetlla A, Chillarón J, Torrents D, Palacín M, Bertranpetit J. Is there selection for the pace of successive inactivation of the arpAT gene in primates?. Journal of molecular evolution 2008 Jul;67(1):23-8 |
Goñi, J.R., Fenollosa, C., Pérez, A., Torrents, D. & Orozco, M. DNAlive: a tool for the physical analysis of DNA at the genomic scale. Bioinformatics 2008 Aug 1;24(15):1731-2 |
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| 2007 |
| Reig N, del Rio C, Casagrande F, Ratera M, Gelpí JL, Torrents D, Henderson PJ, Xie H, Baldwin SA, Zorzano A, Fotiadis D, Palacín M. Functional and Structural Characterization of the First Prokaryotic Member of the L-Amino Acid Transporter (LAT) Family: A MODEL FOR APC TRANSPORTERS. The Journal of biological chemistry 2007 May 4;282(18):13270-81 |
Goñi, J.R., Pérez, A., Torrents, D. & Orozco, M. Determining promoter location based on DNA structure first principle calculations. Genome biology 2007 8(12):R263 |
Omerovic, S., Tomazic, S., Milovannovic, M. & Torrents, D. Knowledge processing and computer architecture. The IPSI BGD Transactions on Advanced Research 2007;(1), 39-46 |
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| 2006 |
| Suyama, M., Harrington, E.D., Bork, P. & Torrents, D. Identification and analysis of genes and pseudogenes within duplicated regions in the human and mouse genomes. PLoS computational biology 2006 Jun 30;2(6):e76 |
Suyama, M., Torrents, D. & Bork, P. PAL2NAL: robust conversion of protein sequence alignments into the corresponding codon alignments. Nucleic acids research 2006 Jul 1;34(Web Server issue):W609-12 |