Genetic & Genomic MedicinemedRxivPreprint
High diagnostic rate of whole genome sequencing in primary ciliary dyskinesia
Holly A. Black, Sophie Marion de Procé, Jose L Campos…·Pleasantine Mill
This study shows that whole genome sequencing (WGS) can achieve a high diagnostic rate for primary ciliary dyskinesia by identifying structural variants and novel disease genes.
DOI 10.1101/2024.02.21.24302995