Multi-component data types from single experiments can resolve complex imprinting-disorder mechanisms
- shared.published_on: December 5 2022
Whole-genome nanopore sequencing provides the ability to call structural variants, phase chromosomes, and call methylation concurrently, for comprehensive understanding of genetic diseases in clinical research.
Download the poster to discover:
- How whole-genome nanopore sequencing of a trio detected a structural variant underlying a heritable form of Prader-Willi syndrome, an imprinting disorder
- How phased haplotypes and methylation calls could be used to identify hereditary patterns of disease and epigenetic silencing patterns in paternal alleles in the Prader-Willi region
