Open access
Aug 2026
Genetic Investigation of X-Linked Defects with Optimized Targeted Long-Read Sequencing.
BACKGROUND X-linked genetic diseases affect males and females through different inheritance patterns influenced by sex, where differential methylation caused by X-chromosome inactivation can present with a range of asymptomatic, mild, and severe symptoms in females. Targeted long-read sequencing (LRS) through adaptive...
Jia Zheng, Keying Li, Jin Han et al.
· Clinical Chemistry · 0 citations