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Updated: Jan 16, 2026

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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利用代表性不足的人口数据可以更好地解释与听力损失相关的遗传变异

Sun Young Joo1,2, Seung Hyun Jang1,2, Jung Ah Kim1,2

  • 1Department of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, 03722, Republic of Korea.

Scientific reports
|September 29, 2025
PubMed
概括

听力损失变种的遗传数据往往缺乏东亚代表性. 这项研究使用韩国和日本的人口数据将许多致病变异重新归类为良性,改善了对不同祖先的变异解释.

关键词:
临床变异解释的解释非综合征性听力损失是什么?人口数据库的人口数据库代表性不足的人口.变体重新分类的变体

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