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针对罕见疾病诊断的优化变异优先级过程:对Exomiser和Genomiser的建议

Isabelle B Cooperstein1, Shruti Marwaha2,3, Alistair Ward1,4

  • 1Department of Human Genetics, University of Utah, Salt Lake City, UT, 84112, USA.

Genome medicine
|October 22, 2025
PubMed
概括

优化的参数显著改善了使用Exomiser和Genomiser工具对罕见疾病诊断的变异优先级. 这些基于证据的建议提高了从外体和基因组测序数据的诊断产量.

关键词:
诊断 诊断 诊断 诊断 诊断外体序列的排序是如何进行的它们是Exomiser和Exomiser.基因组测序是指基因组的测序.基因组测试仪的基因组测试仪在 HPO HPO 中.参数优化 参数优化现象型 现象型 是一种表现型.罕见疾病是一种罕见的疾病.变体优先级的排序方式

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