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Updated: Jan 16, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
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对二次发现基因的频率标准的规范,以改善变异分类对应性

Jennifer J Johnston1, Kristy Lee2, Deborah I Ritter3

  • 1Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD.

bioRxiv : the preprint server for biology
|September 26, 2025
PubMed
概括

本研究为二次发现 (SF) 确定疾病等位基因频率值 (DAFT),以提高变体分类的一致性. 对58个SF单一致病实体 (MDEs) 的计算值与GnomAD数据进行了验证,显示没有一种致病变体超过了确定的BA1极限.

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