[HTML][HTML] Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2)

LM Lange, M Avenali, M Ellis, A Illarionova… - npj Parkinson's …, 2023 - nature.com
LM Lange, M Avenali, M Ellis, A Illarionova, IJ Keller Sarmiento, AH Tan, H Madoev…
npj Parkinson's Disease, 2023nature.com
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 …
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.
nature.com
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