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[Analysis of false-negative cases by Optical genome mapping and a literature review].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2025

Zhang Junrong, Su Min, Zhang Yuquan, Zhang Jianlin

Abstract excerpt

OBJECTIVE: To explore the reasons for false negative results by Optical genome mapping (OGM) analysis of three cases and propose strategies for handling them. METHODS: Three patients presented at the Affiliated Hospital of Nantong University between July 2022 and July 2024 were selected as study subjects. The patients included a 37-year-old female with two miscarriages, a 1.5-year-old boy with delayed motor...

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PMID: 41645368
DOI: 10.3760/cma.j.cn511374-20250725-00455

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