Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

20.3K
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,...
20.3K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

19.4K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
19.4K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

17.1K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
17.1K
DNA Microarrays02:34

DNA Microarrays

23.3K
Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
23.3K
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

119
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
119

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

iSCORE-PD: an isogenic stem cell collection to research Parkinson's disease.

Nature communications·2026
Same author

A genome-wide association study of young onset Parkinson's disease in European ancestry.

medRxiv : the preprint server for health sciences·2026
Same author

Bridging Genetics and Precision Medicine in Parkinson's Disease through GP2.

medRxiv : the preprint server for health sciences·2026
Same author

The Global Parkinson's Disease Genetics (GP2) Genome Browser.

Movement disorders : official journal of the Movement Disorder Society·2026
Same author

Is <i>SORL1</i> a common genetic target across neurodegenerative diseases?: A multi-ancestry biobank scale assessment.

medRxiv : the preprint server for health sciences·2026
Same author

Shared and Sex-Specific Genetic Risk for Parkinson's Disease Risk Across European Populations.

medRxiv : the preprint server for health sciences·2026
Same journal

Preparing Amyotrophic Lateral Sclerosis Clinics to Provide Longitudinal Care for Individuals Carrying ALS Risk Variants.

Neurology. Genetics·2026
Same journal

Erratum: NNZ-2591 in Children and Adolescents With Phelan-McDermid Syndrome: Single-Group, Open-Label, Phase 2 Trial Results.

Neurology. Genetics·2026
Same journal

Expanding the Spectrum of <i>BCAP31</i>-Associated Diseases: Early-Onset Parkinson Disease.

Neurology. Genetics·2026
Same journal

Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in <i>ABCC9</i>-Related Intellectual Disability and Myopathy Syndrome.

Neurology. Genetics·2026
Same journal

Blood Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Candidate Biomarkers in <i>CSF1R</i>-Related Disorder.

Neurology. Genetics·2026
Same journal

Loss of SARM1 Improves Phenotypes in a Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Neurology. Genetics·2026
See all related articles

Related Experiment Video

Updated: Apr 17, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

35.1K

Parkinson Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data Validation.

Samantha Hong1, Mathew J Koretsky1,2, Jens Lichtenberg3

  • 1Center for Alzheimer's and Related Dementias, NIH, Bethesda, MD.

Neurology. Genetics
|April 16, 2026
PubMed
Summary
This summary is machine-generated.

This study explored known Parkinson disease (PD) variants using the NeuroBooster array (NBA). The NBA proved effective for genotyping rare variants, supporting ancestrally diverse research in PD.

More Related Videos

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

19.6K
Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.9K

Related Experiment Videos

Last Updated: Apr 17, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

35.1K
Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

19.6K
Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.9K

Area of Science:

  • Genetics
  • Neuroscience
  • Genomics

Background:

  • Parkinson disease (PD) is influenced by known pathogenic variants (PVs), but large-scale exploration using genotyping arrays is limited.
  • Understanding PV frequencies across diverse ancestries is crucial for comprehensive PD research.

Purpose of the Study:

  • To evaluate the genotyping success of the NeuroBooster array (NBA) for known Parkinson disease PVs.
  • To determine the frequencies of PVs across various ancestral groups within a large dataset.

Main Methods:

  • Analysis of PV presence and allele frequency in 28,710 PD cases, 9,614 other neurodegenerative disorder cases, and 15,821 controls across 11 ancestries.
  • Quality assessment of genotyped PVs on the NBA using cluster plots.

Main Results:

  • Genes with high confidence for causing PD showed more PVs and were present across ancestries.
  • Of 34 known PD gene PVs, 25 were typed by NBA with varying quality classifications (12 good, 4 medium, 9 bad).

Conclusions:

  • Established PD genes are confirmed as pathogenic, underscoring the need for ancestrally diverse research.
  • The NBA is a reliable tool for genotyping rare variants in Parkinson disease research.