NCM 2022: Can nanopore long-read sequencing replace current cytogenetic methods in clinical genetic diagnostics?

Balanced translocations are one example of structural variations that can still only be detected by traditional cytogenetic methods, which have a low resolution. Long-read sequencing combines the advantages of traditional cytogenetic methods with the base-pair-level resolution of newer molecular methods. We carried out a number of pilot studies focusing on different types of structural variants to explore the capability of long-read sequencing to detect structural variants and fine map the involved breakpoints. A broad spectrum of variants has been sequenced, including balanced and unbalanced translocations, tandem duplications, deletions, and inversions. The study is ongoing, but preliminary results have demonstrated that long-read sequencing data enables fine mapping of break points that are inaccessible by other methods.