A quality control portal for sequencing data deposited at the European genome–phenome archive

por Fernández-Orth, Dietmar, Rueda, Manuel, Singh, Babita, Moldes, Mauricio, Jene, Aina, Ferri, Marta, Vasallo, Claudia, Fromont, Lauren A, Navarro, Arcadi, Rambla, Jordi
Publicado 2022

Analysis of Five Gene Sets in Chimpanzees Suggests Decoupling between the Action of Selection on Protein-Coding and on Noncoding Elements

por Santpere, Gabriel, Carnero-Montoro, Elena, Petit, Natalia, Serra, François, Hvilsom, Christina, Rambla, Jordi, Heredia-Genestar, Jose Maria, Halligan, Daniel L., Dopazo, Hernan, Navarro, Arcadi, Bosch, Elena
Publicado 2015

International federation of genomic medicine databases using GA4GH standards

por Thorogood, Adrian, Rehm, Heidi L., Goodhand, Peter, Page, Angela J.H., Joly, Yann, Baudis, Michael, Rambla, Jordi, Navarro, Arcadi, Nyronen, Tommi H., Linden, Mikael, Dove, Edward S., Fiume, Marc, Brudno, Michael, Cline, Melissa S., Birney, Ewan
Publicado 2021

Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond

por Rambla, Jordi, Baudis, Michael, Ariosa, Roberto, Beck, Tim, Fromont, Lauren A., Navarro, Arcadi, Paloots, Rahel, Rueda, Manuel, Saunders, Gary, Singh, Babita, Spalding, John D., Törnroos, Juha, Vasallo, Claudia, Veal, Colin D., Brookes, Anthony J.
Publicado 2022

Integration of EGA secure data access into Galaxy

por Hoogstrate, Youri, Zhang, Chao, Senf, Alexander, Bijlard, Jochem, Hiltemann, Saskia, van Enckevort, David, Repo, Susanna, Heringa, Jaap, Jenster, Guido, Fijneman, Remond J.A., Boiten, Jan-Willem, A. Meijer, Gerrit, Stubbs, Andrew, Rambla, Jordi, Spalding, Dylan, Abeln, Sanne
Publicado 2016

Phenopacket-tools: Building and validating GA4GH Phenopackets

por Danis, Daniel, Jacobsen, Julius O. B., Wagner, Alex H., Groza, Tudor, Beckwith, Martha A., Rekerle, Lauren, Carmody, Leigh C., Reese, Justin, Hegde, Harshad, Ladewig, Markus S., Seitz, Berthold, Munoz-Torres, Monica, Harris, Nomi L., Rambla, Jordi, Baudis, Michael, Mungall, Christopher J., Haendel, Melissa A., Robinson, Peter N.
Publicado 2023

Federated discovery and sharing of genomic data using Beacons

por Fiume, Marc, Cupak, Miroslav, Keenan, Stephen, Rambla, Jordi, de la Torre, Sabela, Dyke, Stephanie O. M., Brookes, Anthony J., Carey, Knox, Lloyd, David, Goodhand, Peter, Haeussler, Maximilian, Baudis, Michael, Stockinger, Heinz, Dolman, Lena, Lappalainen, Ilkka, Törnroos, Juha, Linden, Mikael, Spalding, J. Dylan, Ur-Rehman, Saif, Page, Angela, Flicek, Paul, Sherry, Stephen, Haussler, David, Varma, Susheel, Saunders, Gary, Scollen, Serena
Publicado 2019

Publisher Correction: Federated discovery and sharing of genomic data using Beacons

por Fiume, Marc, Cupak, Miroslav, Keenan, Stephen, Rambla, Jordi, de la Torre, Sabela, Dyke, Stephanie O. M., Brookes, Anthony J., Carey, Knox, Lloyd, David, Goodhand, Peter, Haeussler, Maximilian, Baudis, Michael, Stockinger, Heinz, Dolman, Lena, Lappalainen, Ilkka, Törnroos, Juha, Linden, Mikael, Spalding, J. Dylan, Ur-Rehman, Saif, Page, Angela, Flicek, Paul, Sherry, Stephen, Haussler, David, Varma, Susheel, Saunders, Gary, Scollen, Serena
Publicado 2019

Systematically linking tranSMART, Galaxy and EGA for reusing human translational research data

por Zhang, Chao, Bijlard, Jochem, Staiger, Christine, Scollen, Serena, van Enckevort, David, Hoogstrate, Youri, Senf, Alexander, Hiltemann, Saskia, Repo, Susanna, Pipping, Wibo, Bierkens, Mariska, Payralbe, Stefan, Stringer, Bas, Heringa, Jaap, Stubbs, Andrew, Bonino Da Silva Santos, Luiz Olavo, Belien, Jeroen, Weistra, Ward, Azevedo, Rita, van Bochove, Kees, Meijer, Gerrit, Boiten, Jan-Willem, Rambla, Jordi, Fijneman, Remond, Spalding, J. Dylan, Abeln, Sanne
Publicado 2017

Data infrastructures for AI in medical imaging: a report on the experiences of five EU projects

por Kondylakis, Haridimos, Kalokyri, Varvara, Sfakianakis, Stelios, Marias, Kostas, Tsiknakis, Manolis, Jimenez-Pastor, Ana, Camacho-Ramos, Eduardo, Blanquer, Ignacio, Segrelles, J. Damian, López-Huguet, Sergio, Barelle, Caroline, Kogut-Czarkowska, Magdalena, Tsakou, Gianna, Siopis, Nikolaos, Sakellariou, Zisis, Bizopoulos, Paschalis, Drossou, Vicky, Lalas, Antonios, Votis, Konstantinos, Mallol, Pedro, Marti-Bonmati, Luis, Alberich, Leonor Cerdá, Seymour, Karine, Boucher, Samuel, Ciarrocchi, Esther, Fromont, Lauren, Rambla, Jordi, Harms, Alexander, Gutierrez, Andrea, Starmans, Martijn P. A., Prior, Fred, Gelpi, Josep Ll., Lekadir, Karim
Publicado 2023

The European Genome-phenome Archive in 2021

por Freeberg, Mallory Ann, Fromont, Lauren A, D’Altri, Teresa, Romero, Anna Foix, Ciges, Jorge Izquierdo, Jene, Aina, Kerry, Giselle, Moldes, Mauricio, Ariosa, Roberto, Bahena, Silvia, Barrowdale, Daniel, Barbero, Marcos Casado, Fernandez-Orth, Dietmar, Garcia-Linares, Carles, Garcia-Rios, Emilio, Haziza, Frédéric, Juhasz, Bela, Llobet, Oscar Martinez, Milla, Gemma, Mohan, Anand, Rueda, Manuel, Sankar, Aravind, Shaju, Dona, Shimpi, Ashutosh, Singh, Babita, Thomas, Coline, de la Torre, Sabela, Uyan, Umuthan, Vasallo, Claudia, Flicek, Paul, Guigo, Roderic, Navarro, Arcadi, Parkinson, Helen, Keane, Thomas, Rambla, Jordi
Publicado 2021

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

por Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Corvó, Alberto, Fernández‐Callejo, Marcos, Garcia‐Linares, Carles, Hernandez‐Ferrer, Carles, Luengo, Cristina, Martínez, Inés, Papakonstantinou, Anastasios, Picó‐Amador, Daniel, Protasio, Joan, Thompson, Rachel, Tonda, Raul, Bayés, Mònica, Bullich, Gemma, Camps‐Puchadas, Jordi, Paramonov, Ida, Trotta, Jean‐Rémi, Alonso, Angel, Attimonelli, Marcella, Béroud, Christophe, Bros‐Facer, Virginie, Buske, Orion J., Cañada‐Pallarés, Andrés, Fernández, José M., Hansson, Mats G., Horvath, Rita, Jacobsen, Julius O.B., Kaliyaperumal, Rajaram, Lair‐Préterre, Séverine, Licata, Luana, Lopes, Pedro, López‐Martín, Estrella, Mascalzoni, Deborah, Monaco, Lucia, Pérez‐Jurado, Luis A., Posada de la Paz, Manuel, Rambla, Jordi, Rath, Ana, Riess, Olaf, Robinson, Peter N., Salgado, David, Smedley, Damian, Spalding, Dylan, 't Hoen, Peter A. C., Töpf, Ana, Zaharieva, Irina, Graessner, Holm, Gut, Ivo G., Lochmüller, Hanns, Beltran, Sergi
Publicado 2022

The Data Use Ontology to streamline responsible access to human biomedical datasets

por Lawson, Jonathan, Cabili, Moran N., Kerry, Giselle, Boughtwood, Tiffany, Thorogood, Adrian, Alper, Pinar, Bowers, Sarion R., Boyles, Rebecca R., Brookes, Anthony J., Brush, Matthew, Burdett, Tony, Clissold, Hayley, Donnelly, Stacey, Dyke, Stephanie O.M., Freeberg, Mallory A., Haendel, Melissa A., Hata, Chihiro, Holub, Petr, Jeanson, Francis, Jene, Aina, Kawashima, Minae, Kawashima, Shuichi, Konopko, Melissa, Kyomugisha, Irene, Li, Haoyuan, Linden, Mikael, Rodriguez, Laura Lyman, Morita, Mizuki, Mulder, Nicola, Muller, Jean, Nagaie, Satoshi, Nasir, Jamal, Ogishima, Soichi, Ota Wang, Vivian, Paglione, Laura D., Pandya, Ravi N., Parkinson, Helen, Philippakis, Anthony A., Prasser, Fabian, Rambla, Jordi, Reinold, Kathy, Rushton, Gregory A., Saltzman, Andrea, Saunders, Gary, Sofia, Heidi J., Spalding, John D., Swertz, Morris A., Tulchinsky, Ilia, van Enckevort, Esther J., Varma, Susheel, Voisin, Craig, Yamamoto, Natsuko, Yamasaki, Chisato, Zass, Lyndon, Guidry Auvil, Jaime M., Nyrönen, Tommi H., Courtot, Mélanie
Publicado 2021

GA4GH: International policies and standards for data sharing across genomic research and healthcare

por Rehm, Heidi L., Page, Angela J.H., Smith, Lindsay, Adams, Jeremy B., Alterovitz, Gil, Babb, Lawrence J., Barkley, Maxmillian P., Baudis, Michael, Beauvais, Michael J.S., Beck, Tim, Beckmann, Jacques S., Beltran, Sergi, Bernick, David, Bernier, Alexander, Bonfield, James K., Boughtwood, Tiffany F., Bourque, Guillaume, Bowers, Sarion R., Brookes, Anthony J., Brudno, Michael, Brush, Matthew H., Bujold, David, Burdett, Tony, Buske, Orion J., Cabili, Moran N., Cameron, Daniel L., Carroll, Robert J., Casas-Silva, Esmeralda, Chakravarty, Debyani, Chaudhari, Bimal P., Chen, Shu Hui, Cherry, J. Michael, Chung, Justina, Cline, Melissa, Clissold, Hayley L., Cook-Deegan, Robert M., Courtot, Mélanie, Cunningham, Fiona, Cupak, Miro, Davies, Robert M., Denisko, Danielle, Doerr, Megan J., Dolman, Lena I., Dove, Edward S., Dursi, L. Jonathan, Dyke, Stephanie O.M., Eddy, James A., Eilbeck, Karen, Ellrott, Kyle P., Fairley, Susan, Fakhro, Khalid A., Firth, Helen V., Fitzsimons, Michael S., Fiume, Marc, Flicek, Paul, Fore, Ian M., Freeberg, Mallory A., Freimuth, Robert R., Fromont, Lauren A., Fuerth, Jonathan, Gaff, Clara L., Gan, Weiniu, Ghanaim, Elena M., Glazer, David, Green, Robert C., Griffith, Malachi, Griffith, Obi L., Grossman, Robert L., Groza, Tudor, Guidry Auvil, Jaime M., Guigó, Roderic, Gupta, Dipayan, Haendel, Melissa A., Hamosh, Ada, Hansen, David P., Hart, Reece K., Hartley, Dean Mitchell, Haussler, David, Hendricks-Sturrup, Rachele M., Ho, Calvin W.L., Hobb, Ashley E., Hoffman, Michael M., Hofmann, Oliver M., Holub, Petr, Hsu, Jacob Shujui, Hubaux, Jean-Pierre, Hunt, Sarah E., Husami, Ammar, Jacobsen, Julius O., Jamuar, Saumya S., Janes, Elizabeth L., Jeanson, Francis, Jené, Aina, Johns, Amber L., Joly, Yann, Jones, Steven J.M., Kanitz, Alexander, Kato, Kazuto, Keane, Thomas M., Kekesi-Lafrance, Kristina, Kelleher, Jerome, Kerry, Giselle, Khor, Seik-Soon, Knoppers, Bartha M., Konopko, Melissa A., Kosaki, Kenjiro, Kuba, Martin, Lawson, Jonathan, Leinonen, Rasko, Li, Stephanie, Lin, Michael F., Linden, Mikael, Liu, Xianglin, Liyanage, Isuru Udara, Lopez, Javier, Lucassen, Anneke M., Lukowski, Michael, Mann, Alice L., Marshall, John, Mattioni, Michele, Metke-Jimenez, Alejandro, Middleton, Anna, Milne, Richard J., Molnár-Gábor, Fruzsina, Mulder, Nicola, Munoz-Torres, Monica C., Nag, Rishi, Nakagawa, Hidewaki, Nasir, Jamal, Navarro, Arcadi, Nelson, Tristan H., Niewielska, Ania, Nisselle, Amy, Niu, Jeffrey, Nyrönen, Tommi H., O’Connor, Brian D., Oesterle, Sabine, Ogishima, Soichi, Ota Wang, Vivian, Paglione, Laura A.D., Palumbo, Emilio, Parkinson, Helen E., Philippakis, Anthony A., Pizarro, Angel D., Prlic, Andreas, Rambla, Jordi, Rendon, Augusto, Rider, Renee A., Robinson, Peter N., Rodarmer, Kurt W., Rodriguez, Laura Lyman, Rubin, Alan F., Rueda, Manuel, Rushton, Gregory A., Ryan, Rosalyn S., Saunders, Gary I., Schuilenburg, Helen, Schwede, Torsten, Scollen, Serena, Senf, Alexander, Sheffield, Nathan C., Skantharajah, Neerjah, Smith, Albert V., Sofia, Heidi J., Spalding, Dylan, Spurdle, Amanda B., Stark, Zornitza, Stein, Lincoln D., Suematsu, Makoto, Tan, Patrick, Tedds, Jonathan A., Thomson, Alastair A., Thorogood, Adrian, Tickle, Timothy L., Tokunaga, Katsushi, Törnroos, Juha, Torrents, David, Upchurch, Sean, Valencia, Alfonso, Guimera, Roman Valls, Vamathevan, Jessica, Varma, Susheel, Vears, Danya F., Viner, Coby, Voisin, Craig, Wagner, Alex H., Wallace, Susan E., Walsh, Brian P., Williams, Marc S., Winkler, Eva C., Wold, Barbara J., Wood, Grant M., Woolley, J. Patrick, Yamasaki, Chisato, Yates, Andrew D., Yung, Christina K., Zass, Lyndon J., Zaytseva, Ksenia, Zhang, Junjun, Goodhand, Peter, North, Kathryn, Birney, Ewan
Publicado 2021