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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
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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使用全基因组测序对听力损失的系统遗传评估可以识别病原变异

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

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

Experimental & molecular medicine
|March 31, 2025
PubMed
概括

全基因组测序 (WGS) 提供了一种全面的诊断遗传性听力损失的方法,识别了因果变异,而不是全外基因组测序 (WES). 这种先进的方法提高了感觉神经疾病的诊断产量.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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