While NGS is thought to be best suited for the detection of SNV, most recent reports highlight its utility for the identification of genomic structural variants as demonstrated for GSTs [27], the LDL receptor (LDLR) [40], the PCSK9 enzyme (PCSK9) [47], and various genes underlying retinal dystrophies [48], among others. The gene discussed is LDLR; the disease is Retinal dystrophy.