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[A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2023

Zhuang Danyan, Wang Fei, Ding Shuxia, Zheng Zhoushu, Yu Qi, Lyu Lanqiu, Sun Shuni, Yang Rulai, Que Wenwen, Li Haibo

Abstract excerpt

OBJECTIVE: To assess the value of genetic screening by high-throughput sequencing (HTS) for the early diagnosis of neonatal diseases. METHODS: A total of 2 060 neonates born at Ningbo Women and Children's Hospital from March to September 2021 were selected as the study subjects. All neonates had undergone conventional tandem mass spectrometry metabolite analysis and fluorescent immunoassay analysis. HTS was...

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PMID: 37211996
DOI: 10.3760/cma.j.cn511374-20220720-00479

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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