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

Lara M LangeMicol AvenaliMelina EllisAnastasia IllarionovaIgnacio J Keller SarmientoAi-Huey TanHarutyun MadoevCaterina GalandraJohanna JunkerKarisha RoopnarainJustin SolleClaire WegelZih-Hua FangPeter HeutinkKishore Raj KumarShen-Yang LimEnza Maria ValenteMike NallsCornelis BlauwendraatAndrew B SingletonNiccolo MencacciKatja LohmannChristine Kleinnull null
Published in: NPJ Parkinson's disease (2023)
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.
Keyphrases
  • copy number
  • quality improvement
  • genome wide
  • dna methylation
  • gene expression
  • drug induced