A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

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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

Author: Denomme-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-Marcais, Nolwenn; Kleefstra, Tjitske; Lopez-Martin, Estrella; Jr, Milan Macek; Mencarelli, Maria Antonietta; Moutton, Sebastien; 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, Frederic Tran; Trimouille, Aurelien; Votypka, Pavel; Vries, Bert B. A. de; Willemsen, Marjolein H.; Zurek, Birte; Verloes, Alain; Philippe, Christophe; Vitobello, Antonio; Vissers, Lisenka E. L. M.; Faivre, Laurence
Tübinger Autor(en):
Ellwanger, Kornelia
Graessner, Holm
Haack, Tobias
Zurek, Birte
Published in: Genetics in Medicine (2023), Bd. 25, H. 4
Verlagsangabe: Elsevier Science Inc
Language: English
Full text: http://dx.doi.org/10.1016/j.gim.2023.100018
ISSN: 1098-3600
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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