Long-read sequencing technology has been used to make notable strides in identifying elusive genetic causes of diseases that previously remained undiagnosed. The Scottish Genomes Partnership (SGP), a collaboration with NHS Scotland, focused on diagnosing rare diseases believed to originate from a single gene. Previously, using short-read sequencing (SRS) techniques, SGP had managed to diagnose 23 per cent of cases.To improve diagnosis a study, led by researchers at the Institute of Genetics and Cancer, applied Oxford Nanopore Technologies’ long-read sequencing (LRS) to a cohort of 24 families (made up of 74 individuals) who had not received a diagnosis from the initial short-read technology analysis.Pilot tests showed that even partially degraded DNA samples could be analysed effectively using LRS technology. Further analysis After filtering and reanalysing the data, researchers retained 392 candidate variations for closer examination. Of these, eight were deemed likely to be disease-causing and ultimately three families received definitive genetic diagnoses. These findings demonstrate that long-read sequencing analysis can identify diagnostic structural variants in families with a rare genetic disorder that remain undiagnosed after standard short-read genome sequencing. Professor Tim Aitman Chair of Molecular Pathology and Genetics Related links Tim Aitman Research Group Read the full paper in Springer Nature Tags 2026 This article was published on Friday 7 August 2026
