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Updated: Jul 1, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

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全基因组测序增加了查尔科-玛丽-图斯病的诊断率

Christopher J Record1, Menelaos Pipis1, Mariola Skorupinska1

  • 1Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.

Brain : a journal of neurology
|March 14, 2024
PubMed
概括

全基因组测序 (WGS) 显著改善了在专家中心的Charcot-Marie-Tooth病 (CMT) 患者的遗传诊断率. 尽管WGS取得了进展,但仍存在大量的诊断差距,需要进一步的技术创新来解决未解决的案件.

关键词:
在CMT上使用CMT.在HMSN中,我们可以看到HMSN.在WES WES中,您可以使用在WGS中,使用的是WGS.基因组学就是基因组学.神经遗传学 神经遗传学

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