npj Parkinson s Disease · 2023 · 36 citations · 8 references
Life SciencesGeneticsMolecular GeneticsGenomicsMedical GeneticsNeurogeneticsGenome SequencingMovement Disorder GeneticsNeurodegenerative Disease GeneticsParkinson DiseaseParkinsonian DisordersVariant InterpretationDisease-causing VariantsIncomplete PenetranceLong-read SequencingNeurodegenerative GeneticsParkinson's Disease GeneticsPhenotypic PenetranceUnderrepresented PopulationsWhole Genome Sequencing Studies
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.
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The Ensembl Variant Effect Predictor
William McLaren, Laurent Gil, Sarah Hunt et al. · Genome biology · 2016 · 8.7K citations · Full text
<scp>GP2</scp>: The Global Parkinson's Genetics Program
Movement Disorders · 2021 · 167 citations · Full text
Life Sciences, Genetics, Neurology +17
Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource
Hirotaka Iwaki, Hampton L. Leonard, Mary B. Makarious et al. · Movement Disorders · 2021 · 131 citations · Full text