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Updated: Jun 30, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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通过整合基于规则的和机器学习算法来诊断罕见的门德尔乱,对遗传变异进行可解释的优先排序

Ho Heon Kim1, Dong-Wook Kim1, Junwoo Woo1

  • 1Research and Development Center, 3billion, 14th floor, 416 Teheran-ro, Gangnam-gu, Seoul, 06193, Republic of Korea.

Human genomics
|March 21, 2024
PubMed
概括

一个新的可解释算法,3ASC通过整合临床解释特征和ACMG/AMP指南来提高灵敏度和可解释结果,提高了罕见疾病变异优先级.

关键词:
临床基因组解释的解释可解释的人工智能门德尔的障碍是门德尔的障碍.变体优先级的排序方式

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