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Updated: May 24, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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深度学习模型与罕见疾病队列中的临床级变异致病性分类之间的不一致

Sek Won Kong1,2, In-Hee Lee3, Lauren V Collen4,5

  • 1Computational Health Informatics Program, Boston Children's Hospital, Boston, MA, 02215, USA. sekwon.kong@childrens.harvard.edu.

NPJ genomic medicine
|February 28, 2025
PubMed
概括

像AlphaMissense这样的深度学习工具在预测罕见疾病的致病性误解变体方面存在局限性. 为了更准确地解释遗传变异,需要进一步完善计算方法.

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