Lange Lara M, Avenali Micol, Ellis Melina, Illarionova Anastasia, Keller Sarmiento Ignacio J, Tan Ai-Huey, Madoev Harutyun, Galandra Caterina, Junker Johanna, Roopnarain Karisha, Solle Justin, Wegel Claire, Fang Zih-Hua, Heutink Peter, Kumar Kishore R, Lim Shen-Yang, Valente Enza Maria, Nalls Mike, Blauwendraat Cornelis, Singleton Andrew, Mencacci Niccolo, Lohmann Katja, Klein Christine
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
IRCCS Mondino Foundation, Pavia, Italy.
NPJ Parkinsons Dis. 2023 Jun 27;9(1):100. doi: 10.1038/s41531-023-00526-9.
The Monogenic Network of the Global Parkinson's Genetics Program (GP2) aims to create an efficient infrastructure to accelerate the identification of novel genetic causes of Parkinson's disease (PD) and to improve our understanding of already identified genetic causes, such as reduced penetrance and variable clinical expressivity of known disease-causing variants. We aim to perform short- and long-read whole-genome sequencing for up to 10,000 patients with parkinsonism. Important features of this project are global involvement and focusing on historically underrepresented populations.
全球帕金森病遗传学项目（GP2）的单基因网络旨在创建一个高效的基础设施，以加速帕金森病（PD）新遗传病因的识别，并增进我们对已确定的遗传病因的理解，如已知致病变异的低外显率和可变临床表型。我们旨在对多达10000名帕金森综合征患者进行短读长和长读长全基因组测序。该项目的重要特点是全球参与，并关注历史上代表性不足的人群。
