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Updated: Jun 29, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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优先考虑基因组变异通过DNA,RNA和蛋白质水平特征的致病性,基于极端梯度增强的基因组变异

Maolin Ding1, Ken Chen1, Yuedong Yang2,3

  • 1School of Data and Computer Science, Sun Yat-Sen University, Guangzhou, 510000, China.

Human genetics
|April 4, 2024
PubMed
概括

这项研究引入了一种新的预测器,ML-GVP,它使用多层次的基因组特征来识别引起疾病的遗传变异. 它准确地预测了编码和非编码区域的病原性.

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

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