Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome. - Li, Shuyuan; Hua, Renyi; Han, Xu; Xu, Yan; Li, Ming; Gao, Li; Ma, Ruiyu; Meng, Wanli; Mao, Aiping; Wang, Jian; Wang, Yanlin (Journal of Translational Medicine, 2025)