Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant

Conclusion
Long-read nanopore sequencing provides significant clinical utility when assessing the parental origin of de novo variants.

Source: Journal of Medical Genetics - October 21, 2022 Category: Genetics & Stem Cells Authors: Watson, C. M., Jackson, L., Crinnion, L. A., Bonthron, D. T., Sheridan, E. Tags: Diagnostics Source Type: research