Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.

A recent study suggests that long-read sequencing (LRS) could improve the diagnosis of rare monogenic diseases. The study sequenced a cohort of 98 samples using nanopore sequencing and found that LRS detected additional rare variants, including structural variations and tandem repeats, that were not detected by short-read sequencing (SRS). LRS also successfully phased a large percentage of protein-coding genes and identified diverse genetic causes for the diseases. The study concludes that LRS has the potential to enhance diagnostic yield for rare monogenic diseases and could be useful in future clinical genomics workflows. However, it is important to note that this study has not yet undergone peer review. [Extracted from the article]