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Updated: Jun 25, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
"GenotypeColour": colour visualisation of SNPs and CNVs
Sergio Barlati1, Sergio Chiesa, Chiara Magri
1Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Brescia University, Viale Europa 11, 25123 Brescia, Italy. barlati@med.unibs.it
GenotypeColour is a new software tool for visualizing and comparing large genetic variation datasets from SNP arrays. It aids in interpreting complex genomic data, especially for multiple samples.
Area of Science:
- Genomics
- Bioinformatics
Background:
- High-density single-nucleotide polymorphism (SNP) arrays generate vast amounts of genetic variation data.
- Existing software often lacks comprehensive whole-genome variability visualization systems for data interpretation.
Purpose of the Study:
- To develop a user-friendly software tool for visualizing and comparing large-scale genetic variation data.
- To address the need for effective interpretation of data from SNP arrays.
Main Methods:
- Development of GenotypeColour software.
- Utilizing Affymetrix Human Mapping GeneChips data.
- Implementing features for whole-genome visualization and sample comparison.
Main Results:
- GenotypeColour enables rapid visualization and comparison of extensive genetic data.
- The software displays entire genome variability, genotype, and Copy Number (CNV) states simultaneously.
- It facilitates comparison of multiple samples through "consensus" images and aids in trio analysis and uniparental disomy (UPD) detection.
Conclusions:
- GenotypeColour provides a novel approach to displaying and comparing SNP and Copy Number Variation (CNV) genomic data.
- The software is freely available and particularly beneficial for analyzing multiple samples.
- It enhances the interpretation of complex genomic datasets.
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