Comprehensive reanalysis for CNVs in exome sequencing data from unsolved rare disease cases results in new diagnoses
German M. Demidov, Burcu Yaldiz, José Garcia‐Pelaez, Elke de Boer, Nika Schuermans, Liedewei Van de Vondel, Ida Paramonov, Lennart F. Johansson, Francesco Musacchia, Elisa Benetti, Gemma Bullich, Karolis Sablauskas, Sergi Beltrán, Christian Gilissen, Alexander Hoischen, , Emanuele Raineri
The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.
npj Genomic Medicine · Oct 26, 2024Peer-reviewedGenetic & Genomic Medicine