This has been clearly exemplified by the clinical re-categorisation of the disease pathology for several patients (for example, RP as BBS), the value of detecting pathogenic large structural variants and the continued reanalysis of patient datasets for emerging, previously undetected common pathogenic variants (ABCA4, p.Asn1868Ile) all of which were driven by NGS-based genetic data analysis. Here, ABCA4 is linked to Bardet-Biedl syndrome.