Chromosome

Genetic Investigation of X-Linked Defects with Optimized Targeted Long Read Sequencing by Jia Zheng et al.

X-linked genetic diseases affect males and females through different inheritance patterns, where differential methylation caused by X-chromosome inactivation, or XCI, can lead to a range of symptoms in females.

Here, the authors describe an optimized adaptive sampling-based targeted long-read sequencing protocol using non-high molecular weight DNA for the detection of X-linked genomic variants.

They validated the diagnostic utility of this method in 20 families with X-linked genomic findings.