Related Experiment Video
Updated: Apr 6, 2026

10:17
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
23.4K
Equalizer reduces SNP bias in Affymetrix microarrays.
1Helen Diller Family Comprehensive Cancer Center, University of California at San Francisco, San Francisco, CA, 94158, USA. David.Quigley@ucsf.edu.
BMC Bioinformatics
|July 31, 2015
Summary
Gene expression microarrays can be biased by genome variations. The equalizer software identifies and removes problematic probes, improving accuracy in genetic studies and gene expression analysis.
Area of Science:
- Genomics
- Bioinformatics
- Molecular Biology
Background:
- Gene expression microarrays rely on probe hybridization to reference genomes.
- Deviations in individual genomes (SNPs, indels) can cause systemic bias in microarray experiments.
- Existing bias correction methods often require unavailable replicate data.
Purpose of the Study:
- To present a software tool for identifying and removing microarray probes affected by genome variants.
- To improve the accuracy of gene expression analysis in the presence of genetic variation.
Main Methods:
- Developed the equalizer software package.
- Utilized genome variant data to modify annotation files for Affymetrix platforms.
- Applied the modified annotation files in subsequent microarray data analysis.
Main Results:
- Identified potentially problematic probes a priori using genome sequence information.
- Demonstrated significant reduction in probe hybridization-induced bias in mouse and human samples.
- Reduced false positive and false negative findings in gene expression experiments.
Conclusions:
- The equalizer software effectively reduces probe hybridization bias on Affymetrix microarrays.
- Enables more accurate assessment of germline influence on gene expression.
- Provides a user-friendly tool for eliminating probe bias in genetic studies.
Related Concept Videos
Comparing Copy Number Variations and SNPs
19.3K
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%...
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%...
19.3K
DNA Microarrays
23.0K
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...
23.0K
Single Nucleotide Polymorphisms-SNPs
19.9K
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,...
19.9K

