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Related Concept Videos

DNA Microarrays02:34

DNA Microarrays

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...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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Related Experiment Video

Updated: May 9, 2026

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

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Single nucleotide polymorphism genotyping using BeadChip microarrays.

Gilliam Lambert1, Darwin Tsinajinnie, David Duggan

  • 1Genetic Basis of Human Disease Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.

Current Protocols in Human Genetics
|July 16, 2013
PubMed
Summary
This summary is machine-generated.

Single nucleotide polymorphism (SNP) genotyping via microarrays is a cost-effective method for studying complex diseases and traits. This work presents protocols for manual, semi-manual, and automated processing of BeadChip microarrays for various study throughputs.

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Area of Science:

  • Genetics
  • Genomics
  • Molecular Biology

Background:

  • Single nucleotide polymorphisms (SNPs) are crucial genetic markers for understanding complex human diseases and traits.
  • Genome-wide association studies (GWAS) have identified thousands of significant SNPs across 17 disease categories.
  • Post-GWAS fine-mapping and focused SNP arrays have successfully refined disease-associated regions and identified novel associations.

Purpose of the Study:

  • To present protocols for processing SNP-based microarrays, specifically BeadChip arrays.
  • To offer solutions for manual, semi-manual, and automated workflows.
  • To cater to diverse research needs, from low to high throughput studies.

Main Methods:

  • Detailed protocols for manual (LIMS-free), semi-manual, and automated processing of BeadChip microarrays are described.
  • These methods are applicable to studies requiring genotyping of single nucleotide polymorphisms (SNPs).
  • The protocols are designed to be adaptable for various sample sizes and research throughput requirements.

Main Results:

  • SNP genotyping using microarrays remains a cost-effective genotyping technology, particularly for large sample cohorts.
  • Manual and semi-manual protocols are suitable for lower throughput studies.
  • Semi-manual and automated protocols offer value across all study throughputs (low, medium, and high).

Conclusions:

  • SNP genotyping via microarrays, especially BeadChip arrays, is a powerful and economical tool for genetic association studies.
  • The presented protocols provide flexible options for researchers to optimize SNP genotyping workflows.
  • These standardized protocols facilitate the continued advancement of complex disease research through genetic analysis.