We used a high-throughput next-generation sequencing (NGS) approach to identify PCD-causing mutations in affected individuals that were clinically diagnosed with PCD caused by deficiency of the axonemal ODAs. The NGS pipeline consisted of either whole-exome sequencing or a targeted panel-based resequencing of selected candidate genes, performed in two separate cohorts of individuals with PCD as previously reported.11,42 NGS data were processed through standard quality controls, and sequence reads were aligned back to the genome and annotated for DNA variants, which were then filtered according to a rare recessive disease model11,42 (Tables S2 and S3). This excluded genes that did not have at least one homozygous or two heterozygous changes that were either previously unreported or occurring with an estimated frequency of less than 0.01 in publically available human exome databases (1000 Genomes, NHLBI EVS, dbSNP139). All variants except those predicted to produce a nonsynonymous or splice-site substitution, or an indel, were then removed. For the cases processed through exome sequencing, a filter was also applied to remove variants that were not in chromosomal regions of interest highlighted by autozygosity mapping.