Article
Secondary genomic findings in the 2020 China Neonatal Genomes Project participants.
World journal of pediatrics : WJP - 1 Oct 2022
Xiao Hui, Zhang Jian-Tao, Dong Xin-Ran, Lu Yu-Lan, Wu Bing-Bing, Wang Hui-Jun, Zhao Zheng-Yan, Yang Lin, Zhou Wen-Hao
Abstract excerpt
BACKGROUND: During next generation sequencing (NGS) data interpretation in critically ill newborns, there is a potential for recognizing and reporting secondary findings (SFs). Early awareness of SFs may provide clues for disease prevention. In this study, we assessed the frequency of SFs in the China Neonatal Genomes Project (CNGP) participants. METHODS: A total of 2020 clinical exome sequencing (CES) datasets...
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