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Updated: Jun 29, 2025

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长时间读取的基因组测序和变异重新分析增加了神经发育障碍的诊断产量

Susan M Hiatt1, James M J Lawlor1, Lori H Handley1

  • 1HudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.

medRxiv : the preprint server for health sciences
|April 8, 2024
PubMed
概括

长读基因组测序 (lrGS) 通过检测短读测序 (srGS) 遗漏的变异来显著改善罕见疾病诊断. 这项研究发现,lrGS在16.7%的病例中提供了新的遗传发现,7.3%的病例仅通过lrGS进行诊断.

关键词:
临床测序 临床测序 临床测序LRS 特别版 特别版长阅读序列的测序神经发育障碍是一种神经发育障碍.重复扩张的扩张.结构变化的结构变化.

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