%0 Journal Article
%A Matalonga, Leslie
%A Hernández-Ferrer, Carles
%A Piscia, Davide
%A Schüle-Freyer, Rebecca
%A Synofzik, Matthis
%A Töpf, Ana
%A Vissers, Lisenka E L M
%A de Voer, Richarda
%A Tonda, Raul
%A Laurie, Steven
%A Fernandez-Callejo, Marcos
%A Picó, Daniel
%A Garcia-Linares, Carles
%A Papakonstantinou, Anastasios
%A Corvó, Alberto
%A Joshi, Ricky
%A Diez, Hector
%A Gut, Ivo
%A Hoischen, Alexander
%A Graessner, Holm
%A Beltran, Sergi
%A Cohen, Enzo
%A Cuesta, Isabel
%A Danis, Daniel
%A Denommé-Pichon, Anne-Sophie
%A Duffourd, Yannis
%A Gilissen, Christian
%A Johari, Mridul
%A Laurie, Steven
%A Li, Shuang
%A Matalonga, Leslie
%A Nelson, Isabelle
%A Peters, Sophia
%A Paramonov, Ida
%A Prasanth, Sivakumar
%A Robinson, Peter
%A Sablauskas, Karolis
%A Savarese, Marco
%A Steyaert, Wouter
%A van der Velde, Joeri K
%A Vitobello, Antonio
%A Aretz, Stefan
%A Capella, Gabriel
%A de Voer, Richarda M
%A Evans, Gareth
%A Pelaez, Jose Garcia
%A Holinski-Feder, Elke
%A Hoogerbrugge, Nicoline
%A Laner, Andreas
%A Oliveira, Carla
%A Rump, Andreas
%A Schröck, Evelin
%A Sommer, Anna Katharina
%A Steinke-Lange, Verena
%A Paske, Iris Te
%A Tischkowitz, Marc
%A Valle, Laura
%A Banka, Siddharth
%A Benetti, Elisa
%A Casari, Giorgio
%A Ciolfi, Andrea
%A Clayton-Smith, Jill
%A Dallapiccola, Bruno
%A de Boer, Elke
%A Denommé-Pichon, Anne-Sophie
%A Ellwanger, Kornelia
%A Faivre, Laurence
%A Graessner, Holm
%A Haack, Tobias B
%A Hammarsjö, Anna
%A Havlovicova, Marketa
%A Hoischen, Alexander
%A Hugon, Anne
%A Jackson, Adam
%A Kleefstra, Tjitske
%A Lindstrand, Anna
%A López-Martín, Estrella
%A Macek, Milan
%A Morleo, Manuela
%A Nigro, Vicenzo
%A Nordgren, Ann
%A Pettersson, Maria
%A Pinelli, Michele
%A Pizzi, Simone
%A Posada, Manuel
%A Radio, Francesca Clementina
%A Renieri, Alessandra
%A Rooryck, Caroline
%A Ryba, Lukas
%A Schwarz, Martin
%A Tartaglia, Marco
%A Thauvin, Christel
%A Torella, Annalaura
%A Trimouille, Aurélien
%A Verloes, Alain
%A Vissers, Lisenka
%A Vitobello, Antonio
%A Votypka, Pavel
%A Vyshka, Klea
%A Zurek, Birte
%A Baets, Jonathan
%A Beijer, Danique
%A Bonne, Gisèle
%A Cohen, Enzo
%A Cossins, Judith
%A Evangelista, Teresinha
%A Ferlini, Alessandra
%A Hackman, Peter
%A Hanna, Michael G
%A Horvath, Rita
%A Houlden, Henry
%A Johari, Mridul
%A Lau, Jarred
%A Lochmüller, Hanns
%A Macken, William L
%A Musacchia, Francesco
%A Nascimento, Andres
%A Natera-de Benito, Daniel
%A Nigro, Vincenzo
%A Piluso, Giulio
%A Pini, Veronica
%A Pitceathly, Robert D S
%A Polavarapu, Kiran
%A Cruz, Pedro M Rodriguez
%A Sarkozy, Anna
%A Savarese, Marco
%A Selvatici, Rita
%A Thompson, Rachel
%A Udd, Bjarne
%A Van de Vondel, Liedewei
%A Vandrovcova, Jana
%A Zaharieva, Irina
%A Baets, Jonathan
%A Balicza, Peter
%A Chinnery, Patrick
%A Dürr, Alexandra
%A Haack, Tobias
%A Hengel, Holger
%A Houlden, Henry
%A Kamsteeg, Erik-Jan
%A Kamsteeg, Christoph
%A Lohmann, Katja
%A Macaya, Alfons
%A Marcé-Grau, Anna
%A Maver, Ales
%A Molnar, Judit
%A Münchau, Alexander
%A Peterlin, Borut
%A Riess, Olaf
%A Schöls, Ludger
%A Schüle-Freyer, Rebecca
%A Stevanin, Giovanni
%A Synofzik, Matthis
%A Timmerman, Vincent
%A van de Warrenburg, Bart
%A van Os, Nienke
%A Wayand, Melanie
%A Wilke, Carlo
%A Haack, Tobias B
%A Graessner, Holm
%A Zurek, Birte
%A Ellwanger, Kornelia
%A Ossowski, Stephan
%A Demidov, German
%A Sturm, Marc
%A Schulze-Hentrich, Julia M
%A Schüle-Freyer, Rebecca
%A Kessler, Christoph
%A Wayand, Melanie
%A Schöls, Ludger
%A Hengel, Holger
%A Heutink, Peter
%A Brunner, Han
%A Scheffer, Hans
%A Hoogerbrugge, Nicoline
%A 't Hoen, Peter A C
%A Steyaert, Wouter
%A Sablauskas, Karolis
%A Kamsteeg, Erik-Jan
%A van de Warrenburg, Bart
%A Te Paske, Iris
%A Janssen, Erik
%A Steehouwer, Marloes
%A Yaldiz, Burcu
%A Brookes, Anthony J
%A Veal, Colin
%A Gibson, Spencer
%A Wadsley, Marc
%A Mehtarizadeh, Mehdi
%A Riaz, Umar
%A Warren, Greg
%A Dizjikan, Farid Yavari
%A Shorter, Thomas
%A Straub, Volker
%A Bettolo, Chiara Marini
%A Specht, Sabine
%A Clayton-Smith, Jill
%A Banka, Siddharth
%A Alexander, Elizabeth
%A Jackson, Adam
%A Faivre, Laurence
%A Thauvin, Christel
%A Duffourd, Yannis
%A Tisserant, Emilie
%A Bruel, Ange-Line
%A Peyron, Christine
%A Pélissier, Aurore
%A Beltran, Sergi
%A Gut, Ivo Glynne
%A Laurie, Steven
%A Piscia, Davide
%A Matalonga, Leslie
%A Papakonstantinou, Anastasios
%A Bullich, Gemma
%A Corvo, Alberto
%A Garcia, Carles
%A Fernandez-Callejo, Marcos
%A Hernández, Carles
%A Picó, Daniel
%A Paramonov, Ida
%A Lochmüller, Hanns
%A Gumus, Gulcin
%A Bros-Facer, Virginie
%A Rath, Ana
%A Hanauer, Marc
%A Olry, Annie
%A Lagorce, David
%A Havrylenko, Svitlana
%A Izem, Katia
%A Rigour, Fanny
%A Dürr, Alexandra
%A Davoine, Claire-Sophie
%A Guillot-Noel, Léna
%A Heinzmann, Anna
%A Coarelli, Giulia
%A Bonne, Gisèle
%A Evangelista, Teresinha
%A Allamand, Valérie
%A Nelson, Isabelle
%A Yaou, Rabah Ben
%A Metay, Corinne
%A Eymard, Bruno
%A Cohen, Enzo
%A Atalaia, Antonio
%A Stojkovic, Tanya
%A Macek, Milan
%A Turnovec, Marek
%A Thomasová, Dana
%A Kremliková, Radka Pourová
%A Franková, Vera
%A Havlovicová, Markéta
%A Kremlik, Vlastimil
%A Parkinson, Helen
%A Keane, Thomas
%A Spalding, Dylan
%A Senf, Alexander
%A Danis, Daniel
%A Robert, Glenn
%A Costa, Alessia
%A Patch, Christine
%A Hanna, Mike
%A Houlden, Henry
%A Reilly, Mary
%A Vandrovcova, Jana
%A Muntoni, Francesco
%A Sarkozy, Anna
%A Timmerman, Vincent
%A Baets, Jonathan
%A Van de Vondel, Liedewei
%A Beijer, Danique
%A de Jonghe, Peter
%A Banfi, Sandro
%A Torella, Annalaura
%A Ferlini, Alessandra
%A Selvatici, Rita
%A Rossi, Rachele
%A Neri, Marcella
%A Aretz, Stefan
%A Spier, Isabel
%A Peters, Sophia
%A Oliveira, Carla
%A Pelaez, Jose Garcia
%A Matos, Ana Rita
%A José, Celina São
%A Ferreira, Marta
%A Gullo, Irene
%A Fernandes, Susana
%A Garrido, Luzia
%A Ferreira, Pedro
%A Carneiro, Fátima
%A Swertz, Morris A
%A Johansson, Lennart
%A van der Vries, Gerben
%A Neerincx, Pieter B
%A Roelofs-Prins, Dieuwke
%A Köhler, Sebastian
%A Metcalfe, Alison
%A Rooryck, Caroline
%A Trimouille, Aurelien
%A Castello, Raffaele
%A Morleo, Manuela
%A Varavallo, Alessandra
%A De la Paz, Manuel Posada
%A Sánchez, Eva Bermejo
%A Martín, Estrella López
%A Delgado, Beatriz Martínez
%A de la Rosa, F Javier Alonso García
%A Radio, Francesca Clementina
%A Tartaglia, Marco
%A Renieri, Alessandra
%A Benetti, Elisa
%A Balicza, Peter
%A Molnar, Maria Judit
%A Maver, Ales
%A Peterlin, Borut
%A Münchau, Alexander
%A Lohmann, Katja
%A Herzog, Rebecca
%A Pauly, Martje
%A Macaya, Alfons
%A Marcé-Grau, Anna
%A Osorio, Andres Nascimiento
%A de Benito, Daniel Natera
%A Lochmüller, Hanns
%A Thompson, Rachel
%A Polavarapu, Kiran
%A Beeson, David
%A Cossins, Judith
%A Cruz, Pedro M Rodriguez
%A Hackman, Peter
%A Johari, Mridul
%A Savarese, Marco
%A Udd, Bjarne
%A Horvath, Rita
%A Capella, Gabriel
%A Valle, Laura
%A Holinski-Feder, Elke
%A Laner, Andreas
%A Steinke-Lange, Verena
%A Schröck, Evelin
%A Rump, Andreas
%T Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
%J European journal of human genetics
%V 29
%N 9
%@ 1476-5438
%C Basingstoke
%I Stockton Press
%M DZNE-2021-00717
%P 1337-1347
%D 2021
%X Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The Solve-RD project aims to reveal the molecular causes underlying undiagnosed rare diseases. One of the goals is to implement innovative approaches to reanalyse the exomes and genomes from thousands of well-studied undiagnosed cases. The raw genomic data is submitted to Solve-RD through the RD-Connect Genome-Phenome Analysis Platform (GPAP) together with standardised phenotypic and pedigree data. We have developed a programmatic workflow to reanalyse genome-phenome data. It uses the RD-Connect GPAP's Application Programming Interface (API) and relies on the big-data technologies upon which the system is built. We have applied the workflow to prioritise rare known pathogenic variants from 4411 undiagnosed cases. The queries returned an average of 1.45 variants per case, which first were evaluated in bulk by a panel of disease experts and afterwards specifically by the submitter of each case. A total of 120 index cases (21.2
%K Genetic Testing: methods
%K Genetic Testing: standards
%K Genomics: methods
%K Genomics: standards
%K Humans
%K Pedigree
%K Rare Diseases: diagnosis
%K Rare Diseases: genetics
%K Sensitivity and Specificity
%K Software
%F PUB:(DE-HGF)16
%9 Journal Article
%2 pmc:PMC8440686
%$ pmid:34075210
%R 10.1038/s41431-021-00852-7
%U https://pub.dzne.de/record/155538