Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
German M. Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graeßner, Siddharth Banka, Alfons Macaya, Belén Pérez‐Dueñas, Adam Jackson, Giovanni Stévanin, Jean‐Madeleine de Sainte Agathe, Markéta Havlovičová, , Stephan Ossowski
This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.
European Journal of Human Genetics · May 31, 2024Peer-reviewedGenetic & Genomic Medicine