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Updated: Sep 19, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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咨询为改进在变种分类中使用功能证据的策略提供了信息

Rehan M Villani1, Bronwyn Terrill2, Emma Tudini3

  • 1QIMR Berghofer, Brisbane, QLD, Australia.

American journal of human genetics
|June 6, 2025
PubMed
概括

遗传诊断专业人员由于不清楚的指导方针,难以将功能性测试证据用于变种分类. 开发更好的资源和建议对于临床遗传学中准确的变异解释至关重要.

关键词:
在ACMG/AMP指南中.测试试验 测试试验 测试试验临床基因组学 临床基因组学诊断遗传学诊断遗传学教育教育教育教育的教育.功能性证据是一种功能性证据.病原性评估的病原性评估.变种分类的变种分类.

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