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

DNA Microarrays02:34

DNA Microarrays

16.5K
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...
16.5K

You might also read

Related Articles

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

Sort by
Same author

A large-scale multi-ancestry mitochondrial variant association analysis for cardiometabolic traits.

Nature communications·2026
Same author

DRIVE v3: Command Line Application for Identity-by-Descent Haplotype Clustering in Large Biobank Scale Data.

Genetic epidemiology·2026
Same author

Natural Language Processing for Substance Use Disorder Information Extraction: A Systematic Literature Review.

Current addiction reports·2026
Same author

Mitochondrial Haplogroups and Left Ventricular Diastolic Dysfunction in People Living With and Without HIV.

The Journal of infectious diseases·2026
Same author

Mitochondrial DNA Variation, Antiretroviral Therapy, and Incidence of Diabetes Among Men With and Without HIV.

Open forum infectious diseases·2026
Same author

The Centralized Pain Score: A Method to Identify Nociplastic Pain in Electronic Health Records.

Pain management nursing : official journal of the American Society of Pain Management Nurses·2026

Related Experiment Video

Updated: Apr 22, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

41.3K

Illumina human exome genotyping array clustering and quality control.

Yan Guo1, Jing He2, Shilin Zhao1

  • 1Center for Quantitative Sciences, Vanderbilt University, Nashville, Tennessee, USA.

Nature Protocols
|October 17, 2014
PubMed
Summary

A new exome genotyping array protocol addresses challenges with rare single-nucleotide polymorphisms (SNPs) in large genome-wide association studies (GWASs). This robust method enhances data processing for exome chip-based research.

More Related Videos

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

9.2K
DNA Microarrays: Sample Quality Control, Array Hybridization and Scanning
09:27

DNA Microarrays: Sample Quality Control, Array Hybridization and Scanning

Published on: March 15, 2011

40.5K

Related Experiment Videos

Last Updated: Apr 22, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

41.3K
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

9.2K
DNA Microarrays: Sample Quality Control, Array Hybridization and Scanning
09:27

DNA Microarrays: Sample Quality Control, Array Hybridization and Scanning

Published on: March 15, 2011

40.5K

Area of Science:

  • Genomics
  • Genetic Epidemiology
  • Bioinformatics

Background:

  • High-throughput sequencing is replacing traditional genotyping arrays.
  • Illumina's exome genotyping array targets exomes and rare single-nucleotide polymorphisms (SNPs).
  • Processing exome genotyping array data presents unique challenges compared to common SNP arrays.

Purpose of the Study:

  • To develop a reliable protocol for processing exome genotyping array data.
  • To provide a robust method for large-scale genome-wide association studies (GWASs).
  • To address the difficulties researchers face with exome chip data analysis.

Main Methods:

  • Development of a detailed exome chip-processing protocol by Vanderbilt Epidemiology Center and VANGARD.
  • Implementation of specific clustering techniques.
  • Inclusion of rigorous quality control procedures.

Main Results:

  • The protocol was successfully applied to large exome genotyping array-based studies involving over 60,000 participants.
  • The developed protocol demonstrated effectiveness in handling exome and rare SNP data.
  • Established a reliable framework for exome chip data processing.

Conclusions:

  • The new protocol offers a valuable resource for researchers conducting exome genotyping array-based GWASs.
  • It provides detailed clustering and quality control measures for exome chip data.
  • Facilitates more accurate and efficient genetic association studies using exome arrays.