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Updated: Jul 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

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通过对多样化的特征集进行集体学习,对致病性功能增益和丧失变体的全基因组预测

David Stein1,2,3, Meltem Ece Kars2, Yiming Wu2,4

  • 1Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.

Genome medicine
|December 1, 2023
PubMed
概括

我们开发了LoGoFunc,这是一款机器学习工具,用于预测导致功能增加 (GOF) 或功能丧失 (LOF) 疾病的遗传变异. LoGoFunc准确地区分致病性GOF,LOF和中性变体,性能优于现有的方法.

关键词:
功能获取 - 功能获取基因组医学是一种基因组医学.功能丧失 - 功能丧失.机器学习 机器学习自然语言处理自然语言处理.病原性预测的预测.整个现象的关联研究研究.精准医学是一门精准的医学.蛋白质的功能蛋白质的功能变异对功能影响的影响.

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