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Updated: May 16, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Published on: January 16, 2019

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遗传诊断中的多个核酸变体:来自11,467例听力损失病例的含义

Fandi Ai1, Jiayi Zeng1, Qian Zhang1

  • 1Department of Oto-Rhino-Laryngology, Institute of Rare Diseases, Frontiers Science Center for Disease-related Molecular Networks, West China Hospital, Key Laboratory of Bio-Resource and Eco-Environment of Ministry of Education, College of Life Sciences, Sichuan University, Chengdu, Sichuan 610041, China.

Journal of genetics and genomics = Yi chuan xue bao
|April 6, 2025
PubMed
概括

多核酸变体 (MNVs) 通常被误认为单核酸变体 (SNVs),使遗传诊断复杂化. 这项研究揭示了密码子级MNVs (cMNVs) 显著影响听力损失遗传学,提高诊断准确度.

关键词:
遗传诊断是一种基因诊断.听力损失 听力损失多个核酸变体的多种变体.

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