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Updated: Jun 3, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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利用癌症突变数据来为生殖线错误变异的致病性分类提供信息

Bushra Haque1,2, David Cheerie1,2, Amy Pan1,2

  • 1Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.

PLoS genetics
|January 6, 2025
PubMed
概括

利用癌症突变数据改善了罕见疾病变体的解释. 这项研究使用机器学习来预测生殖线误解变异的致病性,帮助诊断孟德尔病变.

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