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Updated: Jul 26, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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基于频率的罕见诊断作为研究大型数据集中的罕见疾病的新和可访问的方法:一个横截面研究

Thomas S Tröster1, Viktor von Wyl2,3, Patrick E Beeler1,4

  • 1Division of Occupational and Environmental Medicine, Epidemiology, Biostatistics and Prevention Institute, University of Zurich and University Hospital Zurich, Zurich, Switzerland.

BMC medical research methodology
|June 17, 2023
PubMed
概括

基于频率的罕见诊断 (FB-RDx) 可以识别患有罕见疾病的患者,显示死亡,再入院和更长的住院时间的风险增加. 这种方法有助于在大型医疗数据集中全面识别罕见疾病种群.

关键词:
罕见疾病 [MAJR]罕见疾病/流行病学 [MeSH术语]罕见疾病/死亡率 [MeSH 术语]罕见疾病/统计和数字数据 [MeSH术语]

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