Herausforderungen und Fallstricken zum Trotz: Wie die Ophthalmologie von Next-Generation Sequencing profitiert

Abstract

Within a few years, high-throughput sequencing (next-generation sequencing, NGS) has become a routine method in genetic diagnostics and has largely replaced conventional Sanger sequencing. The complexity of NGS data requires sound bioinformatic analysis: pinpointing the disease-causing variants may be difficult, and erroneous interpretations must be avoided. When looking at the group of retinal dystrophies as an example of eye disorders with extensive genetic heterogeneity, one can clearly say that NGS-based diagnostics yield important information for most patients and physicians, and that it has furthered our knowledge significantly. Furthermore, NGS has accelerated ophthalmogenetic research aimed at the identification of novel eye disease genes.

Detection and validation of novel mutations inMERTKin a simplex case of retinal degeneration using WGS and hiPSC–RPEs model

“…Several therapeutic approaches are actively being pursued to treat IRDs (DiCarlo et al, 2018;He et al, 2015;Rodrigues et al, 2018;Wu et al, 2018). The ability to identify and validate all potential causative variants is critical in directing clinical care that takes advantage of these emerging therapies (Bolz, 2017(Bolz, , 2018Carss et al, 2017;Corton et al, 2013). Whole genome sequencing (WGS) enables identification of causative variants in noncoding regions, coding regions and large structural changes.…”