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

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

16.4K
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...
16.4K
DNA Microarrays02:34

DNA Microarrays

21.7K
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...
21.7K
What is Population Genetics?01:25

What is Population Genetics?

65.2K
A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
65.2K

You might also read

Related Articles

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

Sort by
Same author

Systematic Review and Meta-Analysis: Phenotypic Correlates of the Autism Polygenic Score.

JAACAP open·2025
Same author

Shared genetic risk in psychiatric disorders.

Nature·2025
Same author

A Data-Driven Investigation of Environmental Correlates Associated With the Lived Experience of Autistic People.

Journal of autism and developmental disorders·2025
Same author

Exploring community perspectives on autism genetics research: Indications of supportive views and educational needs.

Autism : the international journal of research and practice·2025
Same author

Genetic associations with educational fields.

Nature genetics·2025
Same author

Life without sex: Large-scale study links sexlessness to physical, cognitive, and personality traits, socioecological factors, and DNA.

Proceedings of the National Academy of Sciences of the United States of America·2025

Related Experiment Video

Updated: Mar 11, 2026

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
08:03

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations

Published on: December 7, 2021

2.9K

A method to customize population-specific arrays for genome-wide association testing.

Erik A Ehli1, Abdel Abdellaoui2, Iryna O Fedko2

  • 1Avera Institute for Human Genetics, Sioux Falls, SD, USA.

European Journal of Human Genetics : EJHG
|November 24, 2016
PubMed
Summary

The Axiom-NL array optimizes genotyping assays using the Genome of the Netherlands reference panel, enhancing SNP coverage for X, Y, and mitochondrial chromosomes. This array supports genetic association studies and risk profiling.

More Related Videos

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

4.9K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.8K

Related Experiment Videos

Last Updated: Mar 11, 2026

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
08:03

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations

Published on: December 7, 2021

2.9K
Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

4.9K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.8K

Area of Science:

  • Genomics
  • Population Genetics
  • Bioinformatics

Background:

  • Optimizing population-specific genotyping assays is crucial for genetic research.
  • Whole-genome sequence reference sets improve assay design and imputation accuracy.
  • The Genome of the Netherlands (GoNL) project provides a valuable reference panel.

Purpose of the Study:

  • To detail the design of the Axiom-NL array, optimizing genotyping assays.
  • To enhance imputation backbone using the GoNL reference sequence.
  • To increase SNP inclusion on chromosomes X, Y, and mitochondria.

Main Methods:

  • Designed the Axiom-NL array incorporating common variants compatible with existing arrays (Illumina Psych Array, Affymetrix UK Biobank Axiom).
  • Included SNPs from the GWAS catalog, psychiatric disorder associations, and fertility/twinning studies.
  • Performed coverage tests using GoNL-based sequence data and 1000G imputation reference.

Main Results:

  • The Axiom-NL array features improved imputation backbone and comprehensive SNP inclusion on sex chromosomes and mitochondria.
  • Concordance between original and imputed genotypes exceeded 98% in coverage tests.
  • High imputation quality (R² > 0.80 for MAF > 0.05) was observed across autosomes and the X chromosome.

Conclusions:

  • The Axiom-NL array represents an optimized genotyping assay for population-specific studies.
  • The array facilitates risk profiling, variant detection, and ancestry determination.
  • Genome-wide coverage after imputation supports robust association studies.