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Updated: Sep 13, 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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在与帕金森病相关的基因中进行大规模副本数变异分析

Zied Landoulsi1,2, Katja Lohmann3, Eva-Juliane Vollstedt3

  • 1Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg. zied.landoulsi@lih.lu.

NPJ Parkinson's disease
|August 1, 2025
PubMed
概括

副本数变异 (CNV) 在帕金森病 (PD) 中很重要,特别是在PRKN基因中. 这项研究发现,PNV在PD患者中更常见,这表明它们在疾病风险中的作用.

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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