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Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.

Molecular genetics & genomic medicine - 1 Jan 2024

Cao Ziyang, He Xiaoyan, Wang Dongjuan, Gu Maosheng, Suo Feng, Qiang Rong, Zhang Ruixue, Song Chengrong, Wang Xiaohua, Zhu Bo, Cao Donghua, Yu Haihua, Qu Yiping, Shen Guosong, Wu Jian, Wang Pengpeng, Wang Jinxia, Zhang Hongyang, Yan Zijun, Yu Guangjun, Zou Lin

Abstract excerpt

BACKGROUND: Newborn screening (NBS) aims to detect congenital anomalies, and next-generation sequencing (NGS) has shown promise in this aspect. However, the NBS strategy for monogenic inherited diseases in China remains insufficient. METHODS: We developed a NeoEXOME panel comprising 601 genes that are relevant to the Chinese population found through extensive research on available databases. An interpretation...

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PMID: 38284445
DOI: 10.1002/mgg3.2357
PMCID: PMC10795095

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