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

Authors :
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
Source :
Molecular Genetics & Genomic Medicine; Jan2024, Vol. 12 Issue 1, p1-12, 12p
Publication Year :
2024

Abstract

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 system to grade the results into positive (high‐risk, moderate‐risk, and low‐risk genotypes), negative, and carrier according to the American College of Medical Genetics (ACMG) guidelines was also developed. We validated the panel to evaluate its efficacy by using data from the "1000 Genomes Project" and conducted a pilot multicenter study involving 3423 neonates. Results: The NGS positive rate in the 1000 Genomes Project was 7.6% (23/301), whereas the rate was 12.0% in the multicenter study, including 3249 recruited neonates. Notably, in 200 neonates, positive per conventional NBS, 58.5% (69/118) showed results consistent with NGS. In the remaining 3049 neonates showing negative results in conventional NBS, 271 (8.9%) were positive per NGS, and nine of them were clinically diagnosed with diseases in the follow‐up. Conclusion: We successfully designed a NeoEXOME panel for targeted sequencing of monogenic inherited diseases in NBS. The panel demonstrated high performance in the Chinese population, particularly for the early detection of diseases with no biochemical markers. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
23249269
Volume :
12
Issue :
1
Database :
Complementary Index
Journal :
Molecular Genetics & Genomic Medicine
Publication Type :
Academic Journal
Accession number :
175072158
Full Text :
https://doi.org/10.1002/mgg3.2357