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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.

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Title: 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.
Authors: Li, Shuyuan1,2,3 (AUTHOR), Hua, Renyi1,2,3 (AUTHOR), Han, Xu1,2,3 (AUTHOR), Xu, Yan1,2,3 (AUTHOR), Li, Ming1,2,3 (AUTHOR), Gao, Li1,2,3 (AUTHOR), Ma, Ruiyu1,2,3 (AUTHOR), Meng, Wanli4 (AUTHOR), Mao, Aiping4 (AUTHOR) maoaiping@berrygenomics.com, Wang, Jian1,2,3 (AUTHOR) Labwangjian@shsmu.edu.cn, Wang, Yanlin1,2,3 (AUTHOR) wyanlin@163.com
Source: Journal of Translational Medicine. 3/11/2025, Vol. 23 Issue 1, p1-12. 12p.
Database: Academic Search Ultimate
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        Value: 10.1186/s12967-025-06345-1
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              Text: 3/11/2025
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