High diagnostic rate of whole genome sequencing in primary ciliary dyskinesia
Holly A. Black, Sophie Marion de Procé, Jose L Campos, Alison M. Meynert, Mihail R. Halachev, Joseph A. Marsh, Robert Anthony Hirst, Christopher O’Callaghan, Scottish Genomes Partnership, Javier Santoyo‐López, Jennie Murray, Kenneth A. Macleod, Don S. Urquhart, Stefan Achim Unger, Timothy J. Aitman, 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.
medRxiv · Feb 21, 2024 · PreprintGenetic & Genomic Medicine