ZUREK, Birte, ELLWANGER, Kornelia, VISSERS, Lisenka E. L. M., SCHÜLE, Rebecca, SYNOFZIK, Matthis, TÖPF, Ana, DE VOER, Richarda M., LAURIE, Steven, MATALONGA, Leslie, GILISSEN, Christian, OSSOWSKI, Stephan, ’T HOEN, Peter A. C., VITOBELLO, Antonio, SCHULZE-HENTRICH, Julia M., RIESS, Olaf, BRUNNER, Han G., BROOKES, Anthony J., RATH, Ana, BONNE, Gisèle, GUMUS, Gulcin, VERLOES, Alain, HOOGERBRUGGE, Nicoline, EVANGELISTA, Teresinha, HARMUTH, Tina, SWERTZ, Morris, SPALDING, Dylan, HOISCHEN, Alexander, BELTRAN, Sergi, GRAESSNER, Holm, HAACK, Tobias B., ZUREK, Birte, ELLWANGER, Kornelia, DEMIDOV, German, STURM, Marc, KESSLER, Christoph, WAYAND, Melanie, WILKE, Carlo, TRASCHÜTZ, Andreas, SCHÖLS, Ludger, HENGEL, Holger, HEUTINK, Peter, BRUNNER, Han, SCHEFFER, Hans, STEYAERT, Wouter, SABLAUSKAS, Karolis, DE VOER, Richarda M., KAMSTEEG, Erik-Jan, VAN DE WARRENBURG, Bart, VAN OS, Nienke, TE PASKE, Iris, JANSSEN, Erik, DE BOER, Elke, STEEHOUWER, Marloes, YALDIZ, Burcu, KLEEFSTRA, Tjitske, VEAL, Colin, GIBSON, Spencer, WADSLEY, Marc, MEHTARIZADEH, Mehdi, RIAZ, Umar, WARREN, Greg, DIZJIKAN, Farid Yavari, SHORTER, Thomas, STRAUB, Volker, BETTOLO, Chiara Marini, SPECHT, Sabine, CLAYTON-SMITH, Jill, BANKA, Siddharth, ALEXANDER, Elizabeth, JACKSON, Adam, FAIVRE, Laurence, THAUVIN, Christel, VITOBELLO, Antonio, DENOMMÉ-PICHON, Anne-Sophie, DUFFOURD, Yannis, TISSERANT, Emilie, BRUEL, Ange-Line, PEYRON, Christine, PÉLISSIER, Aurore, BELTRAN, Sergi, GUT, Ivo Glynne, LAURIE, Steven, PISCIA, Davide, MATALONGA, Leslie, PAPAKONSTANTINOU, Anastasios, BULLICH, Gemma, CORVO, Alberto, GARCIA, Carles, FERNANDEZ-CALLEJO, Marcos, HERNÁNDEZ, Carles, PICÓ, Daniel, PARAMONOV, Ida, LOCHMÜLLER, Hanns, GUMUS, Gulcin, BROS-FACER, Virginie, HANAUER, Marc, OLRY, Annie, LAGORCE, David, HAVRYLENKO, Svitlana, IZEM, Katia, RIGOUR, Fanny, STEVANIN, Giovanni, DURR, Alexandra, DAVOINE, Claire-Sophie, GUILLOT-NOEL, Léna, HEINZMANN, Anna, COARELLI, Giulia, ALLAMAND, Valérie, NELSON, Isabelle, YAOU, Rabah Ben, METAY, Corinne, EYMARD, Bruno, COHEN, Enzo, ATALAIA, Antonio, STOJKOVIC, Tanya, MACEK, Milan, TURNOVEC, Marek, THOMASOVÁ, Dana, KREMLIKOVÁ, Radka Pourová, FRANKOVÁ, Vera, HAVLOVICOVÁ, Markéta, KREMLIK, Vlastimil, PARKINSON, Helen, KEANE, Thomas, SENF, Alexander, ROBINSON, Peter, DANIS, Daniel, ROBERT, Glenn, COSTA, Alessia, PATCH, Christine, HANNA, Mike, HOULDEN, Henry, REILLY, Mary, VANDROVCOVA, Jana, MUNTONI, Francesco, ZAHARIEVA, Irina, SARKOZY, Anna, TIMMERMAN, Vincent, BAETS, Jonathan, VAN DE VONDEL, Liedewei, BEIJER, Danique, DE JONGHE, Peter, NIGRO, Vincenzo, BANFI, Sandro, TORELLA, Annalaura, MUSACCHIA, Francesco, PILUSO, Giulio, FERLINI, Alessandra, SELVATICI, Rita, ROSSI, Rachele, NERI, Marcella, ARETZ, Stefan, SPIER, Isabel, SOMMER, Anna Katharina, PETERS, Sophia, OLIVEIRA, Carla, PELAEZ, Jose Garcia, MATOS, Ana Rita, JOSÉ, Celina São, FERREIRA, Marta, GULLO, Irene, FERNANDES, Susana, GARRIDO, Luzia, FERREIRA, Pedro, CARNEIRO, Fátima, SWERTZ, Morris A., JOHANSSON, Lennart, VAN DER VELDE, Joeri K., VAN DER VRIES, Gerben, NEERINCX, Pieter B., ROELOFS-PRINS, Dieuwke, KÖHLER, Sebastian, METCALFE, Alison, VERLOES, Alain, DRUNAT, Séverine, ROORYCK, Caroline, TRIMOUILLE, Aurelien, CASTELLO, Raffaele, MORLEO, Manuela, PINELLI, Michele, VARAVALLO, Alessandra, DE LA PAZ, Manuel Posada, SÁNCHEZ, Eva Bermejo, MARTÍN, Estrella López, DELGADO, Beatriz Martínez, DE LA ROSA, F. Javier Alonso García, CIOLFI, Andrea, DALLAPICCOLA, Bruno, PIZZI, Simone, RADIO, Francesca Clementina, TARTAGLIA, Marco, RENIERI, Alessandra, BENETTI, Elisa, BALICZA, Peter, MOLNAR, Maria Judit, MAVER, Ales, PETERLIN, Borut, MÜNCHAU, Alexander, LOHMANN, Katja, HERZOG, Rebecca, PAULY, Martje, MACAYA, Alfons, MARCÉ-GRAU, Anna, OSORIO, Andres Nascimiento, DE BENITO, Daniel Natera, LOCHMÜLLER, Hanns, THOMPSON, Rachel, POLAVARAPU, Kiran, BEESON, David, COSSINS, Judith, CRUZ, Pedro M. Rodriguez, HACKMAN, Peter, JOHARI, Mridul, SAVARESE, Marco, UDD, Bjarne, HORVATH, Rita, CAPELLA, Gabriel, VALLE, Laura, HOLINSKI-FEDER, Elke, LANER, Andreas, STEINKE-LANGE, Verena, SCHRÖCK, Evelin and RUMP, Andreas (2021). Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. European Journal of Human Genetics, 29 (9), 1325-1331.
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Abstract
Abstract: For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient’s data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe.
Item Type: | Article |
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Identification Number: | https://doi.org/10.1038/s41431-021-00859-0 |
Page Range: | 1325-1331 |
SWORD Depositor: | Colin Knott |
Depositing User: | Colin Knott |
Date Deposited: | 16 Sep 2021 10:07 |
Last Modified: | 16 Sep 2021 15:15 |
URI: | https://shura.shu.ac.uk/id/eprint/29064 |
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