Genome-Wide Mapping of Copy Number Variations Using SNP Arrays

The availability of high-density single nucleotide polymorphism (SNP) microarrays in recent years has proven to be a great step forward in the context of global analysis of genomic abnormalities in disease. SNP arrays offer great robustness, high resolution and the possibility to detect a variety of different genomic copy number variations such as submicroscopic deletions, amplifications, loss of heterozygosity and uniparental disomy. Moreover, they can be used to perform genome-wide association studies. Therefore, SNP arrays harbor several advancements over traditional molecular methods to analyze genomic aberrations, such as cytogenetic analyses, fluorescence in situ hybridization or comparative genomic hybridization methods. Until now, SNP arrays have exclusively been used in experimental research and have enabled seminal new discoveries in many fields by identifying common genomic lesions underlying specific diseases, especially cancer. However, it is foreseeable that SNP arrays will also take up a position in routine diagnostic processes in the future. This review focuses on technical principles of the SNP array technology and their utilization to detect submicroscopic genomic and polymorphic markers associated with disease.