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Updated: Jul 11, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

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长读测序解决了PRKN帕金森病中复杂的结构变异

Kensuke Daida1,2,3, Manabu Funayama3,4, Kimberley J Billingsley5

  • 1Integrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.

Movement disorders : official journal of the Movement Disorder Society
|November 6, 2023
PubMed
概括

这项研究确定了帕金森基因 (PRKN) 中的大规模7 Mb的逆转,这是年轻发病帕金森病的常见原因. 长读测序对于在PD遗传分析中检测这些复杂的结构变异至关重要.

关键词:
在PARK2中.帕金森病的疾病.逆转的反转方式长时间阅读序列排序.结构变体结构变体

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