TY  - JOUR
AU  - Yaldiz, Burcu
AU  - Kucuk, Erdi
AU  - Hampstead, Juliet
AU  - Hofste, Tom
AU  - Pfundt, Rolph
AU  - Corominas Galbany, Jordi
AU  - Rinne, Tuula
AU  - Yntema, Helger G
AU  - Hoischen, Alexander
AU  - Nelen, Marcel
AU  - Gilissen, Christian
ED  - Riess, Olaf / Collaborator
ED  - Haack, Tobias B / Collaborator
ED  - Graessner, Holm / Collaborator
ED  - Zurek, Birte / Collaborator
ED  - Ellwanger, Kornelia / Collaborator
ED  - Ossowski, Stephan / Collaborator
ED  - Demidov, German / Collaborator
ED  - Sturm, Marc / Collaborator
ED  - Schulze-Hentrich, Julia M / Collaborator
ED  - Schüle, Rebecca / Collaborator
ED  - Xu, Jishu / Collaborator
ED  - Kessler, Christoph / Collaborator
ED  - Wayand, Melanie / Collaborator
ED  - Synofzik, Matthis / Collaborator
ED  - Wilke, Carlo / Collaborator
ED  - Traschütz, Andreas / Collaborator
ED  - Schöls, Ludger / Collaborator
ED  - Hengel, Holger / Collaborator
ED  - Lerche, Holger / Collaborator
ED  - Kegele, Josua / Collaborator
ED  - Heutink, Peter / Collaborator
ED  - Brunner, Han / Collaborator
ED  - Scheffer, Hans / Collaborator
ED  - Hoogerbrugge, Nicoline / Collaborator
ED  - Hoischen, Alexander / Collaborator
ED  - Hoen, Peter A C 't / Collaborator
ED  - Vissers, Lisenka E L M / Collaborator
ED  - Gilissen, Christian / Collaborator
ED  - Steyaert, Wouter / Collaborator
ED  - Sablauskas, Karolis / Collaborator
ED  - de Voer, Richarda M / Collaborator
ED  - Kamsteeg, Erik-Jan / Collaborator
ED  - van de Warrenburg, Bart / Collaborator
ED  - van Os, Nienke / Collaborator
ED  - Te Paske, Iris / Collaborator
ED  - Janssen, Erik / Collaborator
ED  - de Boer, Elke / Collaborator
ED  - Steehouwer, Marloes / Collaborator
ED  - Yaldiz, Burcu / Collaborator
ED  - Kleefstra, Tjitske / Collaborator
ED  - Brookes, Anthony J / Collaborator
ED  - Veal, Colin / Collaborator
ED  - Gibson, Spencer / Collaborator
ED  - Maddi, Vatsalya / Collaborator
ED  - Mehtarizadeh, Mehdi / Collaborator
ED  - Riaz, Umar / Collaborator
ED  - Warren, Greg / Collaborator
ED  - Dizjikan, Farid Yavari / Collaborator
ED  - Shorter, Thomas / Collaborator
ED  - Töpf, Ana / Collaborator
ED  - Straub, Volker / Collaborator
ED  - Bettolo, Chiara Marini / Collaborator
ED  - Manera, Jordi Diaz / Collaborator
ED  - Hambleton, Sophie / Collaborator
ED  - Engelhardt, Karin / Collaborator
ED  - Clayton-Smith, Jill / Collaborator
ED  - Banka, Siddharth / Collaborator
ED  - Alexander, Elizabeth / Collaborator
ED  - Jackson, Adam / Collaborator
ED  - Faivre, Laurence / Collaborator
ED  - Thauvin, Christel / Collaborator
ED  - Vitobello, Antonio / Collaborator
ED  - Denommé-Pichon, Anne-Sophie / Collaborator
ED  - Duffourd, Yannis / Collaborator
ED  - Bruel, Ange-Line / Collaborator
ED  - Peyron, Christine / Collaborator
ED  - Pélissier, Aurore / Collaborator
ED  - Beltran, Sergi / Collaborator
ED  - Gut, Ivo Glynne / Collaborator
ED  - Laurie, Steven / Collaborator
ED  - Piscia, Davide / Collaborator
ED  - Matalonga, Leslie / Collaborator
ED  - Papakonstantinou, Anastasios / Collaborator
ED  - Bullich, Gemma / Collaborator
ED  - Corvo, Alberto / Collaborator
ED  - Fernandez-Callejo, Marcos / Collaborator
ED  - Hernández, Carles / Collaborator
ED  - Picó, Daniel / Collaborator
ED  - Paramonov, Ida / Collaborator
ED  - Lochmüller, Hanns / Collaborator
ED  - Gumus, Gulcin / Collaborator
ED  - Bros-Facer, Virginie / Collaborator
ED  - Rath, Ana / Collaborator
ED  - Hanauer, Marc / Collaborator
ED  - Lagorce, David / Collaborator
ED  - Hongnat, Oscar / Collaborator
ED  - Chahdil, Maroua / Collaborator
ED  - Lebreton, Emeline / Collaborator
ED  - Stevanin, Giovanni / Collaborator
ED  - Durr, Alexandra / Collaborator
ED  - Davoine, Claire-Sophie / Collaborator
ED  - Guillot-Noel, Léna / Collaborator
ED  - Heinzmann, Anna / Collaborator
ED  - Coarelli, Giulia / Collaborator
ED  - Bonne, Gisèle / Collaborator
ED  - Evangelista, Teresinha / Collaborator
ED  - Allamand, Valérie / Collaborator
ED  - Nelson, Isabelle / Collaborator
ED  - Yaou, Rabah Ben / Collaborator
ED  - Metay, Corinne / Collaborator
ED  - Eymard, Bruno / Collaborator
ED  - Cohen, Enzo / Collaborator
ED  - Atalaia, Antonio / Collaborator
ED  - Stojkovic, Tanya / Collaborator
ED  - Macek, Milan / Collaborator
ED  - Turnovec, Marek / Collaborator
ED  - Thomasová, Dana / Collaborator
ED  - Kremliková, Radka Pourová / Collaborator
ED  - Franková, Vera / Collaborator
ED  - Havlovicová, Markéta / Collaborator
ED  - Lišková, Petra / Collaborator
ED  - Doležalová, Pavla / Collaborator
ED  - Parkinson, Helen / Collaborator
ED  - Keane, Thomas / Collaborator
ED  - Freeberg, Mallory / Collaborator
ED  - Thomas, Coline / Collaborator
ED  - Spalding, Dylan / Collaborator
ED  - Robinson, Peter / Collaborator
ED  - Danis, Daniel / Collaborator
ED  - Robert, Glenn / Collaborator
ED  - Costa, Alessia / Collaborator
ED  - Patch, Christine / Collaborator
ED  - Hanna, Mike / Collaborator
ED  - Houlden, Henry / Collaborator
ED  - Reilly, Mary / Collaborator
ED  - Vandrovcova, Jana / Collaborator
ED  - Efthymiou, Stephanie / Collaborator
ED  - Morsy, Heba / Collaborator
ED  - Cali, Elisa / Collaborator
ED  - Magrinelli, Francesca / Collaborator
ED  - Sisodiya, Sanjay M / Collaborator
ED  - Rohrer, Jonathan / Collaborator
ED  - Muntoni, Francesco / Collaborator
ED  - Zaharieva, Irina / Collaborator
ED  - Sarkozy, Anna / Collaborator
ED  - Timmerman, Vincent / Collaborator
ED  - Baets, Jonathan / Collaborator
ED  - de Vries, Geert / Collaborator
ED  - De Winter, Jonathan / Collaborator
ED  - Beijer, Danique / Collaborator
ED  - de Jonghe, Peter / Collaborator
ED  - Van de Vondel, Liedewei / Collaborator
ED  - De Ridder, Willem / Collaborator
ED  - Weckhuysen, Sarah / Collaborator
ED  - Nigro, Vincenzo / Collaborator
ED  - Mutarelli, Margherita / Collaborator
ED  - Morleo, Manuela / Collaborator
ED  - Pinelli, Michele / Collaborator
ED  - Varavallo, Alessandra / Collaborator
ED  - Banfi, Sandro / Collaborator
ED  - Torella, Annalaura / Collaborator
ED  - Musacchia, Francesco / Collaborator
ED  - Piluso, Giulio / Collaborator
ED  - Ferlini, Alessandra / Collaborator
ED  - Selvatici, Rita / Collaborator
ED  - Gualandi, Francesca / Collaborator
ED  - Bigoni, Stefania / Collaborator
ED  - Rossi, Rachele / Collaborator
ED  - Neri, Marcella / Collaborator
ED  - Aretz, Stefan / Collaborator
ED  - Spier, Isabel / Collaborator
ED  - Sommer, Anna Katharina / Collaborator
ED  - Peters, Sophia / Collaborator
ED  - Oliveira, Carla / Collaborator
ED  - Pelaez, Jose Garcia / Collaborator
ED  - Matos, Ana Rita / Collaborator
ED  - José, Celina São / Collaborator
ED  - Ferreira, Marta / Collaborator
ED  - Gullo, Irene / Collaborator
ED  - Fernandes, Susana / Collaborator
ED  - Garrido, Luzia / Collaborator
ED  - Ferreira, Pedro / Collaborator
ED  - Carneiro, Fátima / Collaborator
ED  - Swertz, Morris A / Collaborator
ED  - Johansson, Lennart / Collaborator
ED  - van der Velde, Joeri K / Collaborator
ED  - van der Vries, Gerben / Collaborator
ED  - Neerincx, Pieter B / Collaborator
ED  - Ruvolo, David / Collaborator
ED  - Abbott, Kristin M / Collaborator
ED  - Frederikse, Wilhemina SKerstjens / Collaborator
ED  - Zonneveld-Huijssoon, Eveline / Collaborator
ED  - Roelofs-Prins, Dieuwke / Collaborator
ED  - van Gijn, Marielle / Collaborator
ED  - Köhler, Sebastian / Collaborator
ED  - Metcalfe, Alison / Collaborator
ED  - Verloes, Alain / Collaborator
ED  - Drunat, Séverine / Collaborator
ED  - Heron, Delphine / Collaborator
ED  - Mignot, Cyril / Collaborator
ED  - Keren, Boris / Collaborator
ED  - de Sainte Agathe, Jean-Madeleine / Collaborator
ED  - Rooryck, Caroline / Collaborator
ED  - Lacombe, Didier / Collaborator
ED  - Trimouille, Aurelien / Collaborator
ED  - De la Paz, Manuel Posada / Collaborator
ED  - Sánchez, Eva Bermejo / Collaborator
ED  - Martín, Estrella López / Collaborator
ED  - Delgado, Beatriz Martínez / Collaborator
ED  - de la Rosa, F Javier Alonso García / Collaborator
ED  - Ciolfi, Andrea / Collaborator
ED  - Dallapiccola, Bruno / Collaborator
ED  - Pizzi, Simone / Collaborator
ED  - Radio, Francesca Clementina / Collaborator
ED  - Tartaglia, Marco / Collaborator
ED  - Renieri, Alessandra / Collaborator
ED  - Furini, Simone / Collaborator
ED  - Fallerini, Chiara / Collaborator
ED  - Benetti, Elisa / Collaborator
ED  - Balicza, Péter / Collaborator
ED  - Molnár, Mária Judit / Collaborator
ED  - Maver, Ales / Collaborator
ED  - Peterlin, Borut / Collaborator
ED  - Münchau, Alexander / Collaborator
ED  - Lohmann, Katja / Collaborator
ED  - Herzog, Rebecca / Collaborator
ED  - Pauly, Martje / Collaborator
ED  - Macaya, Alfons / Collaborator
ED  - Cazurro-Gutiérrez, Ana / Collaborator
ED  - Pérez-Dueñas, Belén / Collaborator
ED  - Munell, Francina / Collaborator
ED  - Jarava, Clara Franco / Collaborator
ED  - Masó, Laura Batlle / Collaborator
ED  - Marcé-Grau, Anna / Collaborator
ED  - Colobran, Roger / Collaborator
ED  - Osorio, Andrés Nascimento / Collaborator
ED  - de Benito, Daniel Natera / Collaborator
ED  - Lochmüller, Hanns / Collaborator
ED  - Thompson, Rachel / Collaborator
ED  - Polavarapu, Kiran / Collaborator
ED  - Grimbacher, Bodo / Collaborator
ED  - Beeson, David / Collaborator
ED  - Cossins, Judith / Collaborator
ED  - Hackman, Peter / Collaborator
ED  - Johari, Mridul / Collaborator
ED  - Savarese, Marco / Collaborator
ED  - Udd, Bjarne / Collaborator
ED  - Horvath, Rita / Collaborator
ED  - Chinnery, Patrick F / Collaborator
ED  - Ratnaike, Thiloka / Collaborator
ED  - Gao, Fei / Collaborator
ED  - Schon, Katherine / Collaborator
ED  - Capella, Gabriel / Collaborator
ED  - Valle, Laura / Collaborator
ED  - Holinski-Feder, Elke / Collaborator
ED  - Laner, Andreas / Collaborator
ED  - Steinke-Lange, Verena / Collaborator
ED  - Schröck, Evelin / Collaborator
ED  - Rump, Andreas / Collaborator
ED  - Başak, Ayşe Nazlı / Collaborator
ED  - Hemelsoet, Dimitri / Collaborator
ED  - Dermaut, Bart / Collaborator
ED  - Schuermans, Nika / Collaborator
ED  - Poppe, Bruce / Collaborator
ED  - Verdin, Hannah / Collaborator
ED  - Mei, Davide / Collaborator
ED  - Vetro, Annalisa / Collaborator
ED  - Balestrini, Simona / Collaborator
ED  - Guerrini, Renzo / Collaborator
ED  - Claeys, Kristl / Collaborator
ED  - Santen, Gijs W E / Collaborator
ED  - Bijlsma, Emilia K / Collaborator
ED  - Hoffer, Mariette J V / Collaborator
ED  - Ruivenkamp, Claudia A L / Collaborator
ED  - Boztug, Kaan / Collaborator
ED  - Haimel, Matthias / Collaborator
ED  - Maystadt, Isabelle / Collaborator
ED  - Cordts, Isabelle / Collaborator
ED  - Deschauer, Marcus / Collaborator
ED  - Zaganas, Ioannis / Collaborator
ED  - Kokosali, Evgenia / Collaborator
ED  - Lambros, Mathioudakis / Collaborator
ED  - Evangeliou, Athanasios / Collaborator
ED  - Spilioti, Martha / Collaborator
ED  - Kapaki, Elisabeth / Collaborator
ED  - Bourbouli, Mara / Collaborator
ED  - Striano, Pasquale / Collaborator
ED  - Zara, Federico / Collaborator
ED  - Riva, Antonella / Collaborator
ED  - Iacomino, Michele / Collaborator
ED  - Uva, Paolo / Collaborator
ED  - Scala, Marcello / Collaborator
ED  - Scudieri, Paolo / Collaborator
ED  - Cilio, Maria-Roberta / Collaborator
ED  - Carpancea, Evelina / Collaborator
ED  - Depondt, Chantal / Collaborator
ED  - Lederer, Damien / Collaborator
ED  - Sznajer, Yves / Collaborator
ED  - Duerinckx, Sarah / Collaborator
ED  - Mary, Sandrine / Collaborator
ED  - Depienne, Christel / Collaborator
ED  - Roos, Andreas / Collaborator
ED  - May, Patrick / Collaborator
TI  - Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
JF  - HUMAN GENOMICS
J2  - HUM GENOMICS
VL  - 17
PY  - 2023
IS  - 1
SN  - 1473-9542
DO  - 10.1186/s40246-023-00485-5
UR  - https://m2.mtmt.hu/api/publication/33832882
ID  - 33832882
AB  - Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques.We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection.We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques.
LA  - English
DB  - MTMT
ER  - 

TY  - JOUR
AU  - Zurek, Birte
AU  - Ellwanger, Kornelia
AU  - Vissers, Lisenka E. L. M.
AU  - Schuele, Rebecca
AU  - Synofzik, Matthis
AU  - Topf, Ana
AU  - de, Voer Richarda M.
AU  - Laurie, Steven
AU  - Matalonga, Leslie
AU  - Gilissen, Christian
AU  - Ossowski, Stephan
AU  - 't, Hoen Peter A. C.
AU  - Vitobello, Antonio
AU  - Schulze-Hentrich, Julia M.
AU  - Riess, Olaf
AU  - Brunner, Han G.
AU  - Brookes, Anthony J.
AU  - Rath, Ana
AU  - Bonne, Gisele
AU  - Gumus, Gulcin
AU  - Verloes, Alain
AU  - Hoogerbrugge, Nicoline
AU  - Evangelista, Teresinha
AU  - Harmuth, Tina
AU  - Swertz, Morris
AU  - Spalding, Dylan
AU  - Hoischen, Alexander
AU  - Beltran, Sergi
AU  - Graessner, Holm
ED  - Olaf, Riess / Collaborator
ED  - Tobias, B. Haack / Collaborator
ED  - Holm, Graessner / Collaborator
ED  - Birte, Zurek / Collaborator
ED  - Kornelia, Ellwanger / Collaborator
ED  - Stephan, Ossowski / Collaborator
ED  - German, Demidov / Collaborator
ED  - Marc, Sturm / Collaborator
ED  - Julia, M. Schulze-Hentrich / Collaborator
ED  - Rebecca, Schüle / Collaborator
ED  - Christoph, Kessler / Collaborator
ED  - Melanie, Wayand / Collaborator
ED  - Matthis, Synofzik / Collaborator
ED  - Carlo, Wilke / Collaborator
ED  - Andreas, Traschütz / Collaborator
ED  - Ludger, Schöls / Collaborator
ED  - Holger, Hengel / Collaborator
ED  - Peter, Heutink / Collaborator
ED  - Han, Brunner / Collaborator
ED  - Hans, Scheffer / Collaborator
ED  - Nicoline, Hoogerbrugge / Collaborator
ED  - Alexander, Hoischen / Collaborator
ED  - Peter, A. C. ’t Hoen / Collaborator
ED  - Lisenka, E. L. M. Vissers / Collaborator
ED  - Christian, Gilissen / Collaborator
ED  - Wouter, Steyaert / Collaborator
ED  - Karolis, Sablauskas / Collaborator
ED  - Richarda, M. de Voer / Collaborator
ED  - Erik-Jan, Kamsteeg / Collaborator
ED  - Bart, van de Warrenburg / Collaborator
ED  - Nienke, van Os / Collaborator
ED  - Iris, te Paske / Collaborator
ED  - Erik, Janssen / Collaborator
ED  - Elke, de Boer / Collaborator
ED  - Marloes, Steehouwer / Collaborator
ED  - Burcu, Yaldiz / Collaborator
ED  - Tjitske, Kleefstra / Collaborator
ED  - Anthony, J. Brookes / Collaborator
ED  - Colin, Veal / Collaborator
ED  - Spencer, Gibson / Collaborator
ED  - Marc, Wadsley / Collaborator
ED  - Mehdi, Mehtarizadeh / Collaborator
ED  - Umar, Riaz / Collaborator
ED  - Greg, Warren / Collaborator
ED  - Farid, Yavari Dizjikan / Collaborator
ED  - Thomas, Shorter / Collaborator
ED  - Ana, Töpf / Collaborator
ED  - Volker, Straub / Collaborator
ED  - Chiara, Marini Bettolo / Collaborator
ED  - Sabine, Specht / Collaborator
ED  - Jill, Clayton-Smith / Collaborator
ED  - Siddharth, Banka / Collaborator
ED  - Elizabeth, Alexander / Collaborator
ED  - Adam, Jackson / Collaborator
ED  - Laurence, Faivre / Collaborator
ED  - Christel, Thauvin / Collaborator
ED  - Antonio, Vitobello / Collaborator
ED  - Anne-Sophie, Denommé-Pichon / Collaborator
ED  - Yannis, Duffourd / Collaborator
ED  - Emilie, Tisserant / Collaborator
ED  - Ange-Line, Bruel / Collaborator
ED  - Christine, Peyron / Collaborator
ED  - Aurore, Pélissier / Collaborator
ED  - Sergi, Beltran / Collaborator
ED  - Ivo, Glynne Gut / Collaborator
ED  - Steven, Laurie / Collaborator
ED  - Davide, Piscia / Collaborator
ED  - Leslie, Matalonga / Collaborator
ED  - Anastasios, Papakonstantinou / Collaborator
ED  - Gemma, Bullich / Collaborator
ED  - Alberto, Corvo / Collaborator
ED  - Carles, Garcia / Collaborator
ED  - Marcos, Fernandez-Callejo / Collaborator
ED  - Carles, Hernández / Collaborator
ED  - Daniel, Picó / Collaborator
ED  - Ida, Paramonov / Collaborator
ED  - Hanns, Lochmüller / Collaborator
ED  - Gulcin, Gumus / Collaborator
ED  - Virginie, Bros-Facer / Collaborator
ED  - Ana, Rath / Collaborator
ED  - Marc, Hanauer / Collaborator
ED  - Annie, Olry / Collaborator
ED  - David, Lagorce / Collaborator
ED  - Svitlana, Havrylenko / Collaborator
ED  - Katia, Izem / Collaborator
ED  - Fanny, Rigour / Collaborator
ED  - Giovanni, Stevanin / Collaborator
ED  - Alexandra, Durr / Collaborator
ED  - Claire-Sophie, Davoine / Collaborator
ED  - Léna, Guillot-Noel / Collaborator
ED  - Anna, Heinzmann / Collaborator
ED  - Giulia, Coarelli / Collaborator
ED  - Gisèle, Bonne / Collaborator
ED  - Teresinha, Evangelista / Collaborator
ED  - Valérie, Allamand / Collaborator
ED  - Isabelle, Nelson / Collaborator
ED  - Rabah, Ben Yaou / Collaborator
ED  - Corinne, Metay / Collaborator
ED  - Bruno, Eymard / Collaborator
ED  - Enzo, Cohen / Collaborator
ED  - Antonio, Atalaia / Collaborator
ED  - Tanya, Stojkovic / Collaborator
ED  - Milan, Macek Jr. / Collaborator
ED  - Marek, Turnovec / Collaborator
ED  - Dana, Thomasová / Collaborator
ED  - Radka, Pourová Kremliková / Collaborator
ED  - Vera, Franková / Collaborator
ED  - Markéta, Havlovicová / Collaborator
ED  - Vlastimil, Kremlik / Collaborator
ED  - Helen, Parkinson / Collaborator
ED  - Thomas, Keane / Collaborator
ED  - Dylan, Spalding / Collaborator
ED  - Alexander, Senf / Collaborator
ED  - Peter, Robinson / Collaborator
ED  - Daniel, Danis / Collaborator
ED  - Glenn, Robert / Collaborator
ED  - Alessia, Costa / Collaborator
ED  - Christine, Patch / Collaborator
ED  - Mike, Hanna / Collaborator
ED  - Henry, Houlden / Collaborator
ED  - Mary, Reilly / Collaborator
ED  - Jana, Vandrovcova / Collaborator
ED  - Francesco, Muntoni / Collaborator
ED  - Irina, Zaharieva / Collaborator
ED  - Anna, Sarkozy / Collaborator
ED  - Vincent, Timmerman / Collaborator
ED  - Jonathan, Baets / Collaborator
ED  - Liedewei, Van de Vondel / Collaborator
ED  - Danique, Beijer / Collaborator
ED  - Peter, de Jonghe / Collaborator
ED  - Vincenzo, Nigro / Collaborator
ED  - Sandro, Banfi / Collaborator
ED  - Annalaura, Torella / Collaborator
ED  - Francesco, Musacchia / Collaborator
ED  - Giulio, Piluso / Collaborator
ED  - Alessandra, Ferlini / Collaborator
ED  - Rita, Selvatici / Collaborator
ED  - Rachele, Rossi / Collaborator
ED  - Marcella, Neri / Collaborator
ED  - Stefan, Aretz / Collaborator
ED  - Isabel, Spier / Collaborator
ED  - Anna, Katharina Sommer / Collaborator
ED  - Sophia, Peters / Collaborator
ED  - Carla, Oliveira / Collaborator
ED  - Jose, Garcia Pelaez / Collaborator
ED  - Ana, Rita Matos / Collaborator
ED  - Celina, São José / Collaborator
ED  - Marta, Ferreira / Collaborator
ED  - Irene, Gullo / Collaborator
ED  - Susana, Fernandes / Collaborator
ED  - Luzia, Garrido / Collaborator
ED  - Pedro, Ferreira / Collaborator
ED  - Fátima, Carneiro / Collaborator
ED  - Morris, A. Swertz / Collaborator
ED  - Lennart, Johansson / Collaborator
ED  - Joeri, K. van der Velde / Collaborator
ED  - Gerben, van der Vries / Collaborator
ED  - Pieter, B. Neerincx / Collaborator
ED  - Dieuwke, Roelofs-Prins / Collaborator
ED  - Sebastian, Köhler / Collaborator
ED  - Alison, Metcalfe / Collaborator
ED  - Alain, Verloes / Collaborator
ED  - Séverine, Drunat / Collaborator
ED  - Caroline, Rooryck / Collaborator
ED  - Aurelien, Trimouille / Collaborator
ED  - Raffaele, Castello / Collaborator
ED  - Manuela, Morleo / Collaborator
ED  - Michele, Pinelli / Collaborator
ED  - Alessandra, Varavallo / Collaborator
ED  - Manuel, Posada De la Paz / Collaborator
ED  - Eva, Bermejo Sánchez / Collaborator
ED  - Estrella, López Martín / Collaborator
ED  - Beatriz, Martínez Delgado / Collaborator
ED  - F., Javier Alonso García de la Rosa / Collaborator
ED  - Andrea, Ciolfi / Collaborator
ED  - Bruno, Dallapiccola / Collaborator
ED  - Simone, Pizzi / Collaborator
ED  - Francesca, Clementina Radio / Collaborator
ED  - Marco, Tartaglia / Collaborator
ED  - Alessandra, Renieri / Collaborator
ED  - Elisa, Benetti / Collaborator
ED  - Balicza, Péter / Collaborator
ED  - Molnár, Mária Judit / Collaborator
ED  - Ales, Maver / Collaborator
ED  - Borut, Peterlin / Collaborator
ED  - Alexander, Münchau / Collaborator
ED  - Katja, Lohmann / Collaborator
ED  - Rebecca, Herzog / Collaborator
ED  - Martje, Pauly / Collaborator
ED  - Alfons, Macaya / Collaborator
ED  - Anna, Marcé-Grau / Collaborator
ED  - Andres, Nascimiento Osorio / Collaborator
ED  - Daniel, Natera de Benito / Collaborator
ED  - Hanns, Lochmüller / Collaborator
ED  - Rachel, Thompson / Collaborator
ED  - Kiran, Polavarapu / Collaborator
ED  - David, Beeson / Collaborator
ED  - Judith, Cossins / Collaborator
ED  - Pedro, M. Rodriguez Cruz / Collaborator
ED  - Peter, Hackman / Collaborator
ED  - Mridul, Johari / Collaborator
ED  - Marco, Savarese / Collaborator
ED  - Bjarne, Udd / Collaborator
ED  - Rita, Horvath / Collaborator
ED  - Gabriel, Capella / Collaborator
ED  - Laura, Valle / Collaborator
ED  - Elke, Holinski-Feder / Collaborator
ED  - Andreas, Laner / Collaborator
ED  - Verena, Steinke-Lange / Collaborator
ED  - Evelin, Schröck / Collaborator
ED  - Andreas, Rump / Collaborator
TI  - Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
JF  - EUROPEAN JOURNAL OF HUMAN GENETICS
J2  - EUR J HUM GENET
VL  - 29
PY  - 2021
SP  - 1325
EP  - 1331
PG  - 6
SN  - 1018-4813
DO  - 10.1038/s41431-021-00859-0
UR  - https://m2.mtmt.hu/api/publication/32119912
ID  - 32119912
AB  - 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.
LA  - English
DB  - MTMT
ER  -