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Updated: Jul 8, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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评估对等蛋白域的使用,以增加对误解变异分类数据的可用性

Adam Colin Gunning1,2, Caroline Fiona Wright3

  • 1Department of Clinical and Biomedical Sciences (Medical School, Faculty of Health and Life Sciences, University of Exeter, RILD, Barrack Road, Exeter, EX2 5DW, UK. adam.gunning@nhs.net.

Genome medicine
|December 13, 2023
PubMed
概括

分类罕见的误解变体是具有挑战性的. 这项研究引入了使用蛋白质域数据的贝叶斯框架,以提高变异分类准确度,帮助基因组医学.

关键词:
贝叶斯语 贝叶斯语 贝叶斯语 贝叶斯语基因组医学是一种基因组医学.错误的意义的变体.蛋白质域是一个蛋白质域.变体分类的变体分类

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