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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
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Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
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The Parkinson's Disease DNA Variant Browser.

Jonggeol J Kim1,2, Mary B Makarious1, Sara Bandres-Ciga1

  • 1Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.

Movement Disorders : Official Journal of the Movement Disorder Society
|January 26, 2021
PubMed
Summary

Researchers can now explore genetic risk factors for Parkinson's disease (PD) using a new open-access data browser. This tool aggregates genomic data from large studies to aid in identifying PD-risk genes and variants.

Keywords:
Parkinson's diseasedata browsergeneticssequencing

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Area of Science:

  • Genomics
  • Neurodegenerative Diseases
  • Bioinformatics

Background:

  • Parkinson's disease (PD) is a complex neurodegenerative disorder with known genetic links.
  • Over 20 genes are associated with PD or atypical parkinsonism.
  • Genomic research has identified numerous potential PD-causing mutations, but findings are often preliminary.

Purpose of the Study:

  • To create an accessible, open-access summary-level genomic data browser for the Parkinson's disease research community.
  • To aid researchers in identifying potential Parkinson's disease-risk genes and genetic variants.

Main Methods:

  • Harmonized and aggregated sequencing and imputed genotype data from multiple sources.
  • Included data from 102,127 participants: 28,453 PD cases, 1650 proxy cases, and 72,024 controls.

Main Results:

  • A comprehensive summary-level frequency dataset of genetic variants associated with Parkinson's disease has been compiled.
  • The dataset integrates information from large-scale genotyping and sequencing projects.

Conclusions:

  • The Parkinson's Disease Sequencing Browser is a novel Shiny-based web application.
  • It provides researchers with a valuable resource for exploring genetic data related to Parkinson's disease.
  • The browser is publicly accessible at https://pdgenetics.shinyapps.io/VariantBrowser/.