Which technology is used for detecting copy number variations (CNVs) and single nucleotide polymorphisms (SNPs)?

Array Comparative Genomic Hybridization (array CGH) is a powerful technique specifically designed to identify copy number variations (CNVs) and can also detect single nucleotide polymorphisms (SNPs) in a high-throughput manner. This method analyzes the genome across a broad range, allowing for the detection of gains and losses of DNA segments which characterize CNVs.

In array CGH, genomic DNA from a test sample is labeled and hybridized to a microarray containing known DNA probes. By measuring the relative fluorescent signals from the hybridization, it is possible to determine if there is an over-representation or under-representation of certain genomic regions, thus revealing CNVs. While traditional methods may struggle to capture these variations in a comprehensive manner, array CGH effectively provides a detailed overview of these genomic alterations.

In addition, while there are other techniques that can detect SNPs, they may not be as comprehensive in assessing CNVs simultaneously. Massively parallel shotgun sequencing, for instance, is predominantly used for whole-genome sequencing and can identify SNPs but is not specifically designed for CNV detection. Similarly, fluorescent in situ hybridization (FISH) is limited in scope and typically used for targeted investigations rather than genome-wide CNV assessments.