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Updated: May 21, 2025

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对于表型驱动的变体和基因优先级算法的标准基准:PhEval - 表型推断评估框架

Yasemin Bridges1, Vinicius de Souza2, Katherina G Cortes3

  • 1William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, UK. y.bridges@qmul.ac.uk.

BMC bioinformatics
|March 23, 2025
PubMed
概括

PhEval是一个新的工具,为评估用于罕见疾病诊断的变异和基因优先级算法 (VGPAs) 提供了标准化的框架. 它使用真实世界患者数据实现可重现的基准测试,提高诊断准确度.

关键词:
基准测试框架 基准测试框架生物信息学是一种生物信息学.现象包装袋 现象包装袋是指现象包装袋.由表型驱动的分析.罕见疾病的诊断 罕见疾病的诊断变体优先级的排列方式

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