Nanopore sequencing-based episignature detection

Methylation changes characterise a subset of developmental disorders (DD), and yet epigenomic analysis is not routinely performed for these diseases. Whole-genome nanopore sequencing was assessed for its capacity to detect episignatures and pathogenic variants concurrently. The resulting detection rates suggested that ‘it seems likely that long-read sequencing will be implemented as the first-tier test for the diagnosis of DD in the future’.