NEK1 and Joubert syndrome: Although gene defects are still identified through linkage analysis with single nucleotide polymorphism (SNP) microarrays followed by candidate sequencing, e.g., KIF7 associated with acrocallosal, hydrolethalus, and Joubert syndrome [34, 35], CEP41 associated with Joubert syndrome [36], and NEK1 associated with short rib polydactyly [29], next-generation sequencing (NGS) techniques are dramatically speeding up gene identification in the ciliopathy field and in the genetics field in general (Fig. 3) [37].