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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Authors :
Denommé-Pichon, Anne-Sophie Matalonga, Leslie de Boer, Elke Jackson, Adam Benetti, Elisa Banka, Siddharth Bruel, Ange-Line Ciolfi, Andrea Clayton-Smith, Jill Dallapiccola, Bruno Duffourd, Yannis Ellwanger, Kornelia Fallerini, Chiara Gilissen, Christian Graessner, Holm Haack, Tobias B. Havlovicova, Marketa Hoischen, Alexander Jean-Marçais, Nolwenn Kleefstra, Tjitske López-Martín, Estrella Macek, Milan Mencarelli, Maria Antonietta Moutton, Sébastien Pfundt, Rolph Pizzi, Simone Posada, Manuel Radio, Francesca Clementina Renieri, Alessandra Rooryck, Caroline Ryba, Lukas Safraou, Hana Schwarz, Martin Tartaglia, Marco Thauvin-Robinet, Christel Thevenon, Julien Mau-Them, Frédéric Tran Trimouille, Aurélien Votypka, Pavel de Vries, Bert B.A. Willemsen, Marjolein H. Zurek, Birte Verloes, Alain Philippe, Christophe Abbott, Kristin M. Banka, Siddharth de Boer, Elke Ciolfi, Andrea Clayton-Smith, Jill Dallapiccola, Bruno Denommé-Pichon, Anne-Sophie Faivre, Laurence Gilissen, Christian Haack, Tobias B. Havlovicova, Marketa Hoischen, Alexander Jackson, Adam Kerstjens, Mieke Kleefstra, Tjitske Martín, Estrella López Macek, Milan Matalonga, Leslie Maystadt, Isabelle Morleo, Manuela Nigro, Vicenzo Pinelli, Michele Pizzi, Simone Posada, Manuel Radio, Francesca C. Renieri, Alessandra Riess, Olaf Rooryck, Caroline Ryba, Lukas Agathe, Jean-Madeleine de Sainte Santen, Gijs W.E. Schwarz, Martin Tartaglia, Marco Thauvin, Christel Torella, Annalaura Trimouille, Aurélien Verloes, Alain Vissers, Lisenka Vitobello, Antonio Votypka, Pavel Zguro, Kristina Boer, Elke de Cohen, Enzo Danis, Daniel Denommé-Pichon, Anne-Sophie Gao, Fei Gilissen, Christian Horvath, Rita Johari, Mridul Johanson, Lennart Li, Shuang Matalonga, Leslie Morsy, Heba Nelson, Isabelle Paramonov, Ida te Paske, Iris B.A.W. Robinson, Peter Savarese, Marco Steyaert, Wouter Töpf, Ana Trimouille, Aurélien van der Velde, Joeri K. Vandrovcova, Jana Vitobello, Antonio Riess, Olaf Haack, Tobias B. Graessner, Holm Zurek, Birte Ellwanger, Kornelia Ossowski, Stephan Demidov, German Sturm, Marc Schulze-Hentrich, Julia M. Schüle, Rebecca Xu, Jishu Kessler, Christoph Wayand, Melanie Synofzik, Matthis Wilke, Carlo Traschütz, Andreas Schöls, Ludger Hengel, Holger Lerche, Holger Kegele, Josua Heutink, Peter Brunner, Han Scheffer, Hans Hoogerbrugge, Nicoline Hoischen, Alexander ‘t Hoen, Peter A.C. Vissers, Lisenka E.L.M. Gilissen, Christian Steyaert, Wouter Sablauskas, Karolis de Voer, Richarda M. Kamsteeg, Erik-Jan van de Warrenburg, Bart van Os, Nienke Paske, Iris te Janssen, Erik de Boer, Elke Steehouwer, Marloes Yaldiz, Burcu Kleefstra, Tjitske Brookes, Anthony J. Veal, Colin Gibson, Spencer Maddi, Vatsalya Mehtarizadeh, Mehdi Riaz, Umar Warren, Greg Dizjikan, Farid Yavari Shorter, Thomas Töpf, Ana Straub, Volker Bettolo, Chiara Marini Manera, Jordi Diaz Hambleton, Sophie Engelhardt, Karin Clayton-Smith, Jill Banka, Siddharth Alexander, Elizabeth Jackson, Adam Faivre, Laurence Thauvin, Christel Vitobello, Antonio Denommé-Pichon, Anne-Sophie Duffourd, Yannis Bruel, Ange-Line Peyron, Christine Pélissier, Aurore Beltran, Sergi Gut, Ivo Glynne Laurie, Steven Piscia, Davide Matalonga, Leslie Papakonstantinou, Anastasios Bullich, Gemma Corvo, Alberto Fernandez-Callejo, Marcos Hernández, Carles Picó, Daniel Paramonov, Ida Lochmüller, Hanns Gumus, Gulcin Bros-Facer, Virginie Rath, Ana Hanauer, Marc Lagorce, David Hongnat, Oscar Chahdil, Maroua Lebreton, Emeline Stevanin, Giovanni Durr, Alexandra Davoine, Claire-Sophie Guillot-Noel, Léna Heinzmann, Anna Coarelli, Giulia Bonne, Gisèle Evangelista, Teresinha Allamand, Valérie Nelson, Isabelle Ben Yaou, Rabah Metay, Corinne Eymard, Bruno Cohen, Enzo Atalaia, Antonio Stojkovic, Tanya Macek, Milan Turnovec, Marek Thomasová, Dana Kremliková, Radka Pourová Franková, Vera Havlovicová, Markéta Lišková, Petra Doležalová, Pavla Parkinson, Helen Keane, Thomas Freeberg, Mallory Thomas, Coline Spalding, Dylan Robinson, Peter Danis, Daniel Robert, Glenn Costa, Alessia Patch, Christine Hanna, Mike Houlden, Henry Reilly, Mary Vandrovcova, Jana Efthymiou, Stephanie Morsy, Heba Cali, Elisa Magrinelli, Francesca Sisodiya, Sanjay M. Rohrer, Jonathan Muntoni, Francesco Zaharieva, Irina Sarkozy, Anna Timmerman, Vincent Baets, Jonathan de Vries, Geert De Winter, Jonathan Beijer, Danique de Jonghe, Peter Van de Vondel, Liedewei De Ridder, Willem Weckhuysen, Sarah Nigro, Vincenzo Mutarelli, Margherita Morleo, Manuela Pinelli, Michele Varavallo, Alessandra Banfi, Sandro Torella, Annalaura Musacchia, Francesco Piluso, Giulio Ferlini, Alessandra Selvatici, Rita Gualandi, Francesca Bigoni, Stefania 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. Ruvolo, David Abbott, Kristin M. Kerstjens Frederikse, Wilhemina S. Zonneveld-Huijssoon, Eveline Roelofs-Prins, Dieuwke van Gijn, Marielle Köhler, Sebastian Metcalfe, Alison Verloes, Alain Drunat, Séverine Heron, Delphine Mignot, Cyril Keren, Boris Agathe, Jean-Madeleine de Sainte Rooryck, Caroline Lacombe, Didier Trimouille, Aurelien Capella, Gabriel Valle, Laura Holinski-Feder, Elke Laner, Andreas Steinke-Lange, Verena Cilio, Maria-Roberta Carpancea, Evelina Depondt, Chantal Lederer, Damien Sznajer, Yves Duerinckx, Sarah Mary, Sandrine Macaya, Alfons Cazurro-Gutiérrez, Ana Pérez-Dueñas, Belén Munell, Francina Jarava, Clara Franco Masó, Laura Batlle Marcé-Grau, Anna Colobran, Roger Hackman, Peter Johari, Mridul Savarese, Marco Udd, Bjarne Hemelsoet, Dimitri Dermaut, Bart Schuermans, Nika Poppe, Bruce Verdin, Hannah Osorio, Andrés Nascimento Depienne, Christel Roos, Andreas Maystadt, Isabelle Cordts, Isabell Deschauer, Marcus Striano, Pasquale Zara, Federico Riva, Antonella Iacomino, Michele Uva, Paolo Scala, Marcello Scudieri, Paolo Başak, Ayşe Nazlı Claeys, Kristl Boztug, Kaan Haimel, Matthias W.E, Gijs Ruivenkamp, Claudia A.L. Natera de Benito, Daniel Lochmüller, Hanns Thompson, Rachel Polavarapu, Kiran Grimbacher, Bodo Zaganas, Ioannis Kokosali, Evgenia Lambros, Mathioudakis Evangeliou, Athanasios Spilioti, Martha Kapaki, Elisabeth Bourbouli, Mara Ciolfi, Andrea Dallapiccola, Bruno Pizzi, Simone Radio, Francesca Clementina Tartaglia, Marco Balicza, Peter Molnar, Maria Judit De la Paz, Manuel Posada Sánchez, Eva Bermejo Martín, Estrella López Delgado, Beatriz Martínez Alonso García de la Rosa, F. Javier Schröck, Evelin Rump, Andreas Mei, Davide Vetro, Annalisa Balestrini, Simona Guerrini, Renzo Horvath, Rita Chinnery, Patrick F. Ratnaike, Thiloka Gao, Fei Schon, Katherine Maver, Ales Peterlin, Borut Münchau, Alexander Lohmann, Katja Herzog, Rebecca Pauly, Martje May, Patrick Beeson, David Cossins, Judith Renieri, Alessandra Furini, Simone Fallerini, Chiara Benetti, Elisa Afenjar, Alexandra Goldenberg, Alice Masurel, Alice Phan, Alice Dieux-Coeslier, Anne Fargeot, Anne Guerrot, Anne-Marie Toutain, Annick Molin, Arnaud Sorlin, Arthur Putoux, Audrey Jouret, Béatrice Laudier, Béatrice Demeer, Bénédicte Doray, Bérénice Bonniaud, Bertille Isidor, Bertrand Gilbert-Dussardier, Brigitte Leheup, Bruno Reversade, Bruno Paul, Carle Vincent-Delorme, Catherine Neiva, Cecilia Poirsier, Céline Quélin, Chloé Chiaverini, Christine Coubes, Christine Francannet, Christine Colson, Cindy Desplantes, Claire Wells, Constance Goizet, Cyril Lederer, Damien Sanlaville, Damien Amram, Daniel Lehalle, Daphné Geneviève, David Heron, Delphine Lacombe, Didier Gaillard, Dominique Zivi, Einat Sarrazin, Elisabeth Steichen, Elisabeth Schaefer, Élise Lacaze, Elodie Jacquemin, Emmanuel Bongers, Ernie Kilic, Esra Colin, Estelle Giuliano, Fabienne Prieur, Fabienne Laffargue, Fanny Morice-Picard, Fanny Petit, Florence Cartault, François Feillet, François Baujat, Geneviève Morin, Gilles Diene, Gwenaëlle Journel, Hubert Maystadt, Isabelle Perthus, Isabelle Lespinasse, James Alessandri, Jean-Luc Amiel, Jeanne Martinovic, Jelena Delanne, Julian Albuisson, Juliette Lambert, Laëtitia Perrin, Laurence Ousager, Lilian Bomme Van Maldergem, Lionel Pinson, Lucile Ruaud, Lyse Samimi, Mahtab Bournez, Marie Bonnet-Dupeyron, Marie Noëlle Vincent, Marie Jacquemont, Marie-Line Cordier-Alex, Marie-Pierre Gérard-Blanluet, Marion Willems, Marjolaine Spodenkiewicz, Marta Doco-Fenzy, Martine Rossi, Massimiliano Renaud, Mathilde Fradin, Mélanie Mathieu, Michèle Holder-Espinasse, Muriel H. Houcinat, Nada Hanna, Nadine Leperrier, Nathalie Chassaing, Nicolas Philip, Nicole Boute, Odile Van Kien, Philippe Khau Parent, Philippe Bitoun, Pierre Sarda, Pierre Vabres, Pierre Jouk, Pierre-Simon Touraine, Renaud El Chehadeh, Salima Whalen, Sandra Marlin, Sandrine Passemard, Sandrine Grotto, Sarah Bellanger, Séverine Audebert Blesson, Sophie Nambot, Sophie Naudion, Sophie Lyonnet, Stanislas Odent, Sylvie Attie-Bitach, Tania Busa, Tiffany Drouin-Garraud, Valérie Layet, Valérie Bizaoui, Varoona Cusin, Véronica Capri, Yline Alembik, Yves Vitobello, Antonio Vissers, Lisenka E.L.M. Faivre, Laurence
Source :
Genetics in Medicine; 20230101, Issue: Preprints
Publication Year :
2023
Abstract
Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism, and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned.
Details
Language :
English
ISSN :
10983600 and 15300366
Issue :
Preprints
Database :
Supplemental Index
Journal :
Genetics in Medicine
Publication Type :
Periodical
Accession number :
ejs61725633
Full Text :
https://doi.org/10.1016/j.gim.2023.100018