Measuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing.

ABSTRACT: X-linked genetic disorders typically affect females less severely than males owing to the presence of a second X Chromosome not carrying the deleterious variant. However, the phenotypic expression in females is highly variable, which may be explained by an allelic skew in X-Chromosome inactivation. Accurate measurement of X inactivation skew is crucial to understand and predict disease phenotype in carrier females, with prediction especially relevant for degenerative conditions. We propose a novel approach using nanopore sequencing to quantify skewed X inactivation accurately. By phasing sequence variants and methylation patterns, this single assay reveals the disease variant, X inactivation skew, and its directionality and is applicable to all patients and X-linked variants. Enrichment of

SUBMITTER: Gocuk SA 

PROVIDER: S-EPMC11610576 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature