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Updated: Jan 17, 2026

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在临床实践中应用国家全基因组测序发现用于罕见疾病:多学科方法的必要性

Kyung Sun Park1, Sunghwan Shin2, Jong-Ho Park3

  • 1Department of Laboratory Medicine, Kyung Hee University Medical Center, Kyung Hee University College of Medicine, Seoul, Republic of Korea.

Annals of laboratory medicine
|September 17, 2025
PubMed
概括

从一项罕见疾病试点研究中重新分析全基因组测序 (WGS) 数据,显著提高了诊断率. 这凸显了医院层面分析和家庭数据对于有效的罕见病诊断的重要性.

关键词:
群组研究是指群组研究.诊断 诊断 诊断 诊断 诊断家庭 家庭 家庭 家庭基因型 基因型 基因型医院 医院 医院 医院韩国 韩国 韩国 韩国患者 患者 患者 患者现象型 现象型 是一种现象型.罕见疾病 罕见疾病整个基因组的测序.

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