학술논문
Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)
Document Type
article
Author
Lara M. Lange; Micol Avenali; Melina Ellis; Anastasia Illarionova; Ignacio J. Keller Sarmiento; Ai-Huey Tan; Harutyun Madoev; Caterina Galandra; Johanna Junker; Karisha Roopnarain; Justin Solle; Claire Wegel; Zih-Hua Fang; Peter Heutink; Kishore R. Kumar; Shen-Yang Lim; Enza Maria Valente; Mike Nalls; Cornelis Blauwendraat; Andrew Singleton; Niccolo Mencacci; Katja Lohmann; Christine Klein; the Global Parkinson’s Genetic Program (GP2)
Source
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-5 (2023)
Subject
Language
English
ISSN
2373-8057
Abstract
Abstract 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.