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Updated: Jul 9, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
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Published on: August 24, 2013

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诺SV:可解释的表型感知模型,用于优先考虑受结构变异影响的基因

Zhuoran Xu1,2,3, Quan Li4, Luigi Marchionni3

  • 1Graduate Group in Genomics and Computational Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.

Nature communications
|November 28, 2023
PubMed
概括

PhenoSV是一个新的机器学习工具,可以解释所有结构变异 (SV) 并识别与疾病相关的基因. 它通过分析所有SV类型和非编码区域来改进现有方法,以获得更好的遗传疾病洞察力.

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