@article{01GYYMK7P6MRHM0QJ19FAMCXHH,
  abstract     = {{Purpose: 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. Methods: Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results: We identified causal variants in 59 cases (3.9%), 50 of them also raised by other ap-proaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion: The "ClinVar low-hanging fruit" analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock. (c) 2023 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).}},
  articleno    = {{100018}},
  author       = {{Denommé-Pichon, Anne-Sophie and Matalonga, Leslie and de Boer, Elke and Jackson, Adam and Benetti, Elisa and Banka, Siddharth and Bruel, Ange-Line and Ciolfi, Andrea and Clayton-Smith, Jill and Dallapiccola, Bruno and Duffourd, Yannis and Ellwanger, Kornelia and Fallerini, Chiara and Gilissen, Christian and Graessner, Holm and Haack, Tobias B. and Havlovicova, Marketa and Hoischen, Alexander and Jean-Marçais, Nolwenn and Kleefstra, Tjitske and López-Martín, Estrella and Macek, Milan and Mencarelli, Maria Antonietta and Moutton, Sébastien and Pfundt, Rolph and Pizzi, Simone and Posada, Manuel and Radio, Francesca Clementina and Renieri, Alessandra and Rooryck, Caroline and Ryba, Lukas and Safraou, Hana and Schwarz, Martin and Tartaglia, Marco and Thauvin-Robinet, Christel and Thevenon, Julien and Tran Mau-Them, Frédéric and Trimouille, Aurélien and Votypka, Pavel and de Vries, Bert B.A. and Willemsen, Marjolein H. and Zurek, Birte and Verloes, Alain and Philippe, Christophe and Vitobello, Antonio and Vissers, Lisenka E.L.M. and Faivre, Laurence and Abbott, Kristin M. and Kerstjens, Mieke and Martín, Estrella López and Maystadt, Isabelle and Morleo, Manuela and Nigro, Vicenzo and Pinelli, Michele and Radio, Francesca C. and Riess, Olaf and Agathe, Jean-Madeleine de Sainte and Santen, Gijs W.E. and Thauvin, Christel and Torella, Annalaura and Vissers, Lisenka and Zguro, Kristina and Cohen, Enzo and Danis, Daniel and Gao, Fei and Horvath, Rita and Johari, Mridul and Johanson, Lennart and Li, Shuang and Morsy, Heba and Nelson, Isabelle and Paramonov, Ida and te Paske, Iris B.A.W. and Robinson, Peter and Savarese, Marco and Steyaert, Wouter and Töpf, Ana and van der Velde, Joeri K. and Vandrovcova, Jana and Riess, Olaf and Ossowski, Stephan and Demidov, German and Sturm, Marc and Schulze-Hentrich, Julia M. and Schüle, Rebecca and Xu, Jishu and Kessler, Christoph and Wayand, Melanie and Synofzik, Matthis and Wilke, Carlo and Traschütz, Andreas and Schöls, Ludger and Hengel, Holger and Lerche, Holger and Kegele, Josua and Heutink, Peter and Brunner, Han and Scheffer, Hans and Hoogerbrugge, Nicoline and ‘t Hoen, Peter A.C. and Steyaert, Wouter and Sablauskas, Karolis and de Voer, Richarda M. and Kamsteeg, Erik-Jan and van de Warrenburg, Bart and van Os, Nienke and Paske, Iris te and Janssen, Erik and Steehouwer, Marloes and Yaldiz, Burcu and Brookes, Anthony J. and Veal, Colin and Gibson, Spencer and Maddi, Vatsalya and Mehtarizadeh, Mehdi and Riaz, Umar and Warren, Greg and Dizjikan, Farid Yavari and Shorter, Thomas and Töpf, Ana and Straub, Volker and Bettolo, Chiara Marini and Manera, Jordi Diaz and Hambleton, Sophie and Engelhardt, Karin and Alexander, Elizabeth and Thauvin, Christel and Peyron, Christine and Pélissier, Aurore and Beltran, Sergi and Gut, Ivo Glynne and Laurie, Steven and Piscia, Davide and Papakonstantinou, Anastasios and Bullich, Gemma and Corvo, Alberto and Fernandez-Callejo, Marcos and Hernández, Carles and Picó, Daniel and Paramonov, Ida and Lochmüller, Hanns and Gumus, Gulcin and Bros-Facer, Virginie and Rath, Ana and Hanauer, Marc and Lagorce, David and Hongnat, Oscar and Chahdil, Maroua and Lebreton, Emeline and Stevanin, Giovanni and Durr, Alexandra and Davoine, Claire-Sophie and Guillot-Noel, Léna and Heinzmann, Anna and Coarelli, Giulia and Bonne, Gisèle and Evangelista, Teresinha and Allamand, Valérie and Nelson, Isabelle and Ben Yaou, Rabah and Metay, Corinne and Eymard, Bruno and Cohen, Enzo and Atalaia, Antonio and Stojkovic, Tanya and Turnovec, Marek and Thomasová, Dana and Kremliková, Radka Pourová and Franková, Vera and Lišková, Petra and Doležalová, Pavla and Parkinson, Helen and Keane, Thomas and Freeberg, Mallory and Thomas, Coline and Spalding, Dylan and Robinson, Peter and Danis, Daniel and Robert, Glenn and Costa, Alessia and Patch, Christine and Hanna, Mike and Houlden, Henry and Reilly, Mary and Vandrovcova, Jana and Efthymiou, Stephanie and Morsy, Heba and Cali, Elisa and Magrinelli, Francesca and Sisodiya, Sanjay M. and Rohrer, Jonathan and Muntoni, Francesco and Zaharieva, Irina and Sarkozy, Anna and Timmerman, Vincent and Baets, Jonathan and de Vries, Geert and De Winter, Jonathan and Beijer, Danique and de Jonghe, Peter and Van de Vondel, Liedewei and De Ridder, Willem and Weckhuysen, Sarah and Nigro, Vincenzo and Mutarelli, Margherita and Morleo, Manuela and Pinelli, Michele and Varavallo, Alessandra and Banfi, Sandro and Torella, Annalaura and Musacchia, Francesco and Piluso, Giulio and Ferlini, Alessandra and Selvatici, Rita and Gualandi, Francesca and Bigoni, Stefania and Rossi, Rachele and Neri, Marcella and Aretz, Stefan and Spier, Isabel and Sommer, Anna Katharina and Peters, Sophia and Oliveira, Carla and Pelaez, Jose Garcia and Matos, Ana Rita and José, Celina São and Ferreira, Marta and Gullo, Irene and Fernandes, Susana and Garrido, Luzia and Ferreira, Pedro and Carneiro, Fátima and Swertz, Morris A. and Johansson, Lennart and van der Velde, Joeri K. and van der Vries, Gerben and Neerincx, Pieter B. and Ruvolo, David and Abbott, Kristin M. and Kerstjens Frederikse, Wilhemina S. and Zonneveld-Huijssoon, Eveline and Roelofs-Prins, Dieuwke and van Gijn, Marielle and Köhler, Sebastian and Metcalfe, Alison and Drunat, Séverine and Heron, Delphine and Mignot, Cyril and Keren, Boris and Agathe, Jean-Madeleine de Sainte and Lacombe, Didier and Capella, Gabriel and Valle, Laura and Holinski-Feder, Elke and Laner, Andreas and Steinke-Lange, Verena and Cilio, Maria-Roberta and Carpancea, Evelina and Depondt, Chantal and Lederer, Damien and Sznajer, Yves and Duerinckx, Sarah and Mary, Sandrine and Macaya, Alfons and Cazurro-Gutiérrez, Ana and Pérez-Dueñas, Belén and Munell, Francina and Jarava, Clara Franco and Masó, Laura Batlle and Marcé-Grau, Anna and Colobran, Roger and Hackman, Peter and Johari, Mridul and Savarese, Marco and Udd, Bjarne and Hemelsoet, Dimitri and Dermaut, Bart and Schuermans, Nika and Poppe, Bruce and Verdin, Hannah and Osorio, Andrés Nascimento and Depienne, Christel and Roos, Andreas and Maystadt, Isabelle and Cordts, Isabell and Deschauer, Marcus and Striano, Pasquale and Zara, Federico and Riva, Antonella and Iacomino, Michele and Uva, Paolo and Scala, Marcello and Scudieri, Paolo and Başak, Ayşe Nazlı and Claeys, Kristl and Boztug, Kaan and Haimel, Matthias and W.E, Gijs and Ruivenkamp, Claudia A.L. and Natera de Benito, Daniel and Lochmüller, Hanns and Thompson, Rachel and Polavarapu, Kiran and Grimbacher, Bodo and Zaganas, Ioannis and Kokosali, Evgenia and Lambros, Mathioudakis and Evangeliou, Athanasios and Spilioti, Martha and Kapaki, Elisabeth and Bourbouli, Mara and Balicza, Peter and Molnar, Maria Judit and De la Paz, Manuel Posada and Sánchez, Eva Bermejo and Martín, Estrella López and Delgado, Beatriz Martínez and Alonso García de la Rosa, F. Javier and Schröck, Evelin and Rump, Andreas and Mei, Davide and Vetro, Annalisa and Balestrini, Simona and Guerrini, Renzo and Horvath, Rita and Chinnery, Patrick F. and Ratnaike, Thiloka and Gao, Fei and Schon, Katherine and Maver, Ales and Peterlin, Borut and Münchau, Alexander and Lohmann, Katja and Herzog, Rebecca and Pauly, Martje and May, Patrick and Beeson, David and Cossins, Judith and Furini, Simone and Afenjar, Alexandra and Goldenberg, Alice and Masurel, Alice and Phan, Alice and Dieux-Coeslier, Anne and Fargeot, Anne and Guerrot, Anne-Marie and Toutain, Annick and Molin, Arnaud and Sorlin, Arthur and Putoux, Audrey and Jouret, Béatrice and Laudier, Béatrice and Demeer, Bénédicte and Doray, Bérénice and Bonniaud, Bertille and Isidor, Bertrand and Gilbert-Dussardier, Brigitte and Leheup, Bruno and Reversade, Bruno and Paul, Carle and Vincent-Delorme, Catherine and Neiva, Cecilia and Poirsier, Céline and Quélin, Chloé and Chiaverini, Christine and Coubes, Christine and Francannet, Christine and Colson, Cindy and Desplantes, Claire and Wells, Constance and Goizet, Cyril and Lederer, Damien and Sanlaville, Damien and Amram, Daniel and Lehalle, Daphné and Geneviève, David and Heron, Delphine and Lacombe, Didier and Gaillard, Dominique and Zivi, Einat and Sarrazin, Elisabeth and Steichen, Elisabeth and Schaefer, Élise and Lacaze, Elodie and Jacquemin, Emmanuel and Bongers, Ernie and Kilic, Esra and Colin, Estelle and Giuliano, Fabienne and Prieur, Fabienne and Laffargue, Fanny and Morice-Picard, Fanny and Petit, Florence and Cartault, François and Feillet, François and Baujat, Geneviève and Morin, Gilles and Diene, Gwenaëlle and Journel, Hubert and Maystadt, Isabelle and Perthus, Isabelle and Lespinasse, James and Alessandri, Jean-Luc and Amiel, Jeanne and Martinovic, Jelena and Delanne, Julian and Albuisson, Juliette and Lambert, Laëtitia and Perrin, Laurence and Ousager, Lilian Bomme and Van Maldergem, Lionel and Pinson, Lucile and Ruaud, Lyse and Samimi, Mahtab and Bournez, Marie and Bonnet-Dupeyron, Marie Noëlle and Vincent, Marie and Jacquemont, Marie-Line and Cordier-Alex, Marie-Pierre and Gérard-Blanluet, Marion and Willems, Marjolaine and Spodenkiewicz, Marta and Doco-Fenzy, Martine and Rossi, Massimiliano and Renaud, Mathilde and Fradin, Mélanie and Mathieu, Michèle and Holder-Espinasse, Muriel H. and Houcinat, Nada and Hanna, Nadine and Leperrier, Nathalie and Chassaing, Nicolas and Philip, Nicole and Boute, Odile and Van Kien, Philippe Khau and Parent, Philippe and Bitoun, Pierre and Sarda, Pierre and Vabres, Pierre and Jouk, Pierre-Simon and Touraine, Renaud and El Chehadeh, Salima and Whalen, Sandra and Marlin, Sandrine and Passemard, Sandrine and Grotto, Sarah and Bellanger, Séverine Audebert and Blesson, Sophie and Nambot, Sophie and Naudion, Sophie and Lyonnet, Stanislas and Odent, Sylvie and Attie-Bitach, Tania and Busa, Tiffany and Drouin-Garraud, Valérie and Layet, Valérie and Bizaoui, Varoona and Cusin, Véronica and Capri, Yline and Alembik, Yves and Solve-RD DITF-ITHACA, [missing] and Solve-RD SNV-indel Working Group, [missing] and Solve-RD Consortia, [missing] and Orphanomix Group, [missing]}},
  issn         = {{1098-3600}},
  journal      = {{GENETICS IN MEDICINE}},
  keywords     = {{Genetics (clinical),Rare diseases,Exome reanalysis,Developmental disorder,ClinVar}},
  language     = {{eng}},
  number       = {{4}},
  pages        = {{15}},
  title        = {{A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing}},
  url          = {{http://doi.org/10.1016/j.gim.2023.100018}},
  volume       = {{25}},
  year         = {{2023}},
}

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