Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

2024 . Demidov, German | Laurie, Steven | Torella, Annalaura | PILUSO, Giulio | Scala, Marcello | Morleo, Manuela | Nigro, Vincenzo | Graessner, Holm | Banka, Siddharth | Solve-RD consortium | Macaya, Alfons | Pérez-Dueñas, Belén | Jackson, Adam | Stevanin, Giovanni | de Sainte Agathe, Jean-Madeleine | Havlovicová, Markéta | Horvath, Rita | Pinelli, Michele | van Os, Nienke J. H. | van de Warrenburg, Bart P. C. | Denommé-Pichon, Anne-Sophie | Savarese, Marco | Johari, Mridul | Dallapiccola, Bruno | Tartaglia, Marco | Pauly, Martje G. | Sommer, Anna Katharina | Haack, Tobias B. | Töpf, Ana | Didier, Lacombe | Fallerini, Chiara | Renieri, Alessandra | Chinnery, Patrick F. | Natera-de Benito, Daniel | Nascimento, Andres | Trimouille, Aurélien | Munell, Francina | Marcé-Grau, Anna | Rabah, Ben Yaou | Bonne, Gisèle | Van de Vondel, Liedewei | Lohmann, Katja | Ossowski, Stephan