Article
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2023
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, Tran Mau-Them Frédéric, Trimouille Aurélien, Votypka Pavel, de Vries Bert B A, Willemsen Marjolein H, Zurek Birte, Verloes Alain, Philippe Christophe, Vitobello Antonio, Vissers Lisenka E L M, Faivre Laurence
Abstract excerpt
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...
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