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Updated: Jun 15, 2025

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在全基因组数据上对变异效应预测者的校准可以掩盖跨基因的异质性表现

Malvika Tejura1, Shawn Fayer1, Abbye E McEwen2

  • 1Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.

American journal of human genetics
|August 22, 2024
PubMed
概括

在 silico 变异效应预测显示基因的性能各不相同. 基因特异性分析揭示了许多不一致的预测,强调了临床变异分类中需要量身定制的校准.

关键词:
校准,校准和校准的时间.变异效应预测器的变异效应预测器变体解释变体解释

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