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Updated: Jul 4, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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优先考虑者的精细偏好改善了孟德尔病的智能诊断

Xiao Yuan1, Jieqiong Su1, Jing Wang1

  • 1Changsha Kingmed Center for Clinical Laboratory, Lutian Road 28, Changsha, 410000, Hunan, China.

Scientific reports
|February 3, 2024
PubMed
概括

优化基因优先级工具,如Exomiser和LIRICAL显著提高了门德尔病的诊断产量. 这些增强的工具准确地对因果基因进行排名,有助于诊断遗传疾病.

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