Implementation of nanopore whole-genome long-read sequencing in clinical genetic research
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Long-read sequencing combines the advantages of traditional cytogenetic methods with the base-pair-level resolution of newer molecular methods. This study is 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 using the PromethION platform, including different complex chromosomal rearrangements. Samples with known balanced and unbalanced translocations, tandem duplications, deletions, and inversions is included to test the potential of long-read sequencing in clinical genetic research. The study is ongoing, but preliminary results have demonstrated that long-read sequencing data enables fine mapping of break points that are inaccessible by current methods which enabled a more precise resolution of the mutations.