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Updated: Jul 8, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

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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在13,845个病例中对变异丰富的定量值:改善遗传性听力损失的致病性分类

Sihan Liu1,2, Mingjun Zhong2, Yu Huang2

  • 1Department of Oto-Rhino-Laryngology, West China Hospital, Sichuan University, Chengdu, 610000, China.

Genome medicine
|December 19, 2023
PubMed
概括

本研究确定了遗传性听力损失 (HL) 病例中变异丰富的定量值,通过改进致病性标准来提高临床遗传测试的准确性.

关键词:
在ACMG/AMP指南中.队列数据集是一组数据集.听力损失 听力损失 听力损失对于PS4来说,这是一个很好的选择.变体分类的变体分类

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