相关实验视频

Updated: Jun 19, 2025

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

Published on: April 4, 2018

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高深度全基因组测序识别了与帕金森病相关的结构变异,副本数变异和短串联重复

Chaodong Wang1, Hankui Liu2, Xu-Ying Li1

  • 1Department of Neurology & Neurobiology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, 100053, China.

NPJ Parkinson's disease
|July 23, 2024
PubMed
概括

这项研究揭示了帕金森病 (PD) 的新型遗传因素,确定了与PD风险相关的副本数变异 (CNV) 和短串重复 (STR). 特定的删除和重复扩张会影响疾病的透率,为PD的遗传基础提供新的见解.

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