Global Parkinson's Genetics Program (GP2) Monogenic Network Protocol: Elucidating causative gene variants in hereditary Parkinson's disease

Lara Mariah Lange; Micol Avenali; Melina Ellis; Anastasia Illarionova; Ignacio Juan Keller Sarmiento; Ai Huey Tan; Harutyun Madoev; Caterina Galandra; Johanna Junker; Karisha Roopnarain; Justin Cook Solle; Claire Wegel; Zih‐Hua Fang; Peter Heutink; Kishore Raj Kumar; Shen‐Yang Lim; Enza Maria Valente; Mike A. Nalls; Cornelis Blauwendraat; Andrew Singleton; Niccolò Emanuele Mencacci; Katja Lohmann; Christine Klein; the Global Parkinson’s Genetic Program (GP2)

doi:10.1101/2022.12.01.22282794

Genetic & Genomic MedicinemedRxivDec 1, 2022

Preprint

Global Parkinson's Genetics Program (GP2) Monogenic Network Protocol: Elucidating causative gene variants in hereditary Parkinson's disease

Lara Mariah Lange iD, Micol Avenali iD, Melina Ellis iD, Anastasia Illarionova iD, Ignacio Juan Keller Sarmiento iD, Ai Huey Tan iD, Harutyun Madoev iD, Caterina Galandra iD, Johanna Junker iD, Karisha Roopnarain iD, Justin Cook Solle iD, Claire Wegel, Zih‐Hua Fang iD, Peter Heutink iD, Kishore Raj Kumar iD, Shen‐Yang Lim iD, Enza Maria Valente iD, Mike A. Nalls iD, Cornelis Blauwendraat iD, Andrew Singleton iD, Niccolò Emanuele Mencacci iD, Katja Lohmann iD, Christine Klein iD, the Global Parkinson’s Genetic Program (GP2)

Abstract

The Monogenic Network of the Global Parkinsons Genetics Program (GP2) aims to create an efficient infrastructure to accelerate the identification of novel genetic causes of Parkinsons 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.

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