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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.

par 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 Bernd;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;Tran Mau-Them, Frédéric;Trimouille, Aurélien;Votypka, Pavel;de Vries, Bert B A;Willemsen, Marjolein H;Zurek, Birte;Verloes, Alain ;Philippe, Christophe;Solve-RD DITF-ITHACA, Sarah;Solve-RD SNV-indel Working Group, Antonio;Solve-RD Consortia, Lisenka E L M LELM;Duerinckx, Laurence ;Orphanomix Group, ;Vitobello, ;Vissers, ;Faivre,
Référence Genetics in medicine, 25, 4, page (100018)
Publication Publié, 2023-04-01

Article révisé par les pairs

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Résumé :

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.