Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates
© 2024 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:12 |
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| Enthalten in: |
Molecular genetics & genomic medicine - 12(2024), 1 vom: 03. Jan., Seite e2357 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Cao, Ziyang [VerfasserIn] |
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| Links: |
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| Themen: |
Journal Article |
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| Anmerkungen: |
Date Completed 30.01.2024 Date Revised 31.01.2024 published: Print Citation Status MEDLINE |
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| doi: |
10.1002/mgg3.2357 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 520 | |a © 2024 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Multicenter Study | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a NeoEXOME panel performance | |
| 650 | 4 | |a monogenic inherited diseases | |
| 650 | 4 | |a newborn screening | |
| 650 | 4 | |a pilot study | |
| 650 | 4 | |a targeted sequencing | |
| 700 | 1 | |a He, Xiaoyan |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Dongjuan |e verfasserin |4 aut | |
| 700 | 1 | |a Gu, Maosheng |e verfasserin |4 aut | |
| 700 | 1 | |a Suo, Feng |e verfasserin |4 aut | |
| 700 | 1 | |a Qiang, Rong |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Ruixue |e verfasserin |4 aut | |
| 700 | 1 | |a Song, Chengrong |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Xiaohua |e verfasserin |4 aut | |
| 700 | 1 | |a Zhu, Bo |e verfasserin |4 aut | |
| 700 | 1 | |a Cao, Donghua |e verfasserin |4 aut | |
| 700 | 1 | |a Yu, Haihua |e verfasserin |4 aut | |
| 700 | 1 | |a Qu, Yiping |e verfasserin |4 aut | |
| 700 | 1 | |a Shen, Guosong |e verfasserin |4 aut | |
| 700 | 1 | |a Wu, Jian |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Pengpeng |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Jinxia |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Hongyang |e verfasserin |4 aut | |
| 700 | 1 | |a Yan, Zijun |e verfasserin |4 aut | |
| 700 | 1 | |a Yu, Guangjun |e verfasserin |4 aut | |
| 700 | 1 | |a Zou, Lin |e verfasserin |4 aut | |
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