Utility, benefits, and risks of newborn genetic screening carrier reports for families

Author:

Wang Xin1,Sun Yun1,Zhao Jing-Yu2,Guan Xian-Wei1,Wang Yan-Yun1,Hong Dong-Yang1,Zhang Zhi-Lei1,Li Ya-Hong1,Yang Pei-Ying1,Jiang Tao1,Xu Zheng-Feng1

Affiliation:

1. Genetic Medicine Center, Women’s Hospital of Nanjing Medical University, Nanjing Women and Children’s Healthcare Hospital, Nanjing, China

2. Clin Lab, BGI Genomics, Nanjing, China

Publisher

International Society of Global Health

Reference33 articles.

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2. Newborn screening.;Sahai;Crit Rev Clin Lab Sci,2009

3. Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing.;Mu;Genet Med,2019

4. Anchored multiplex PCR for targeted next-generation sequencing.;Zheng;Nat Med,2014

5. A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.;Yang;World J Pediatr,2023

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