Fig. 9

The diagram of variant detection in suspected PCD patients by WES and/or low-pass WGS in combination. Detected biallelic mutations in candidate genes, which should be either homozygous or compound heterozygous, were verified by Sanger sequencing. If only one variant in a certain candidate gene was found that was confirmed to be pathogenic by ACMG, Low-pass WGS was performed for targeted CNV analysis to detect the second hit. These patients and their parents, if available, also underwent qPCR to ascertain detected CNVs. For those unsolved cases, new genes may be implicated, and further analysis and functional identification are necessary