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Updated: May 9, 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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一项关于基因变异 (重新) 分类背后不断演变的证据的试点超级研究

Haotian Ma1, Zihan Xu1, Wendy Chung2

  • 1Weill Cornell Medicine, New York, NY, US.

medRxiv : the preprint server for health sciences
|April 29, 2025
PubMed
概括

在BRCA1和BRCA2基因中重新分类具有不确定的意义的变异 (VUS) 需要更强有力的证据. 这项研究发现了引用准确性和货币的问题,突出了基因组变异重新分类中需要多样化的种群的需要.

关键词:
遗传变异是一种遗传变异.超级研究的研究.突变是一种突变.变种重新分类变种重新分类

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