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Updated: Sep 18, 2025

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下一代测序用于罕见的儿科遗传疾病的诊断产量:一个单一中心的经验

Milena Stoyanova1,2, Dinnar Yahya1,2, Mari Hachmeriyan1,2

  • 1Department of Medical Genetics, Medical University Varna, Marin Drinov Str 55, 9000 Varna, Bulgaria.

Medical sciences (Basel, Switzerland)
|June 25, 2025
PubMed
概括

整体外体测序 (WES) 是诊断儿童罕见遗传疾病的宝贵工具,其诊断收益率为51.25%. 深度表型和WES可以提高诊断成功,特别是在复杂的病例中.

关键词:
诊断产出率是指诊断产出率是指诊断产出率.遗传咨询 遗传咨询 遗传咨询这是下一代测序.罕见疾病是一种罕见的疾病.成功率 成功率 的成功率.

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