A genotyping array is a high-throughput technology widely utilized in genetic research, clinical diagnostics, and personalized medicine to analyze genetic variations across a genome. This innovative approach relies on microarrays—small, high-density chips embedded with thousands to millions of DNA probes that can detect specific genetic markers, such as single nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations.
The process typically begins with the extraction of DNA from a biological sample, such as blood or saliva. The DNA is then fragmented, amplified, and labeled with fluorescent tags before being hybridized onto the array. Each probe on the array is designed to target a specific genetic sequence, and when the labeled DNA binds to its complementary probe, it generates a fluorescent signal. These signals are scanned and analyzed to determine the presence or absence of particular genetic variants.
Genotyping arrays have significantly advanced our understanding of genetic predispositions to diseases, enabling researchers to identify associations between genetic markers and various conditions, such as cancer, diabetes, and cardiovascular disorders. In personalized medicine, they are instrumental in tailoring treatments to an individual’s genetic makeup, optimizing drug efficacy, and minimizing adverse reactions. Additionally, genotyping arrays play a vital role in population genetics, helping to uncover evolutionary patterns and genetic diversity among populations.
Despite their many advantages, genotyping arrays have limitations, such as being constrained to detecting only known variants included on the chip. However, ongoing technological advancements are improving their sensitivity, coverage, and ability to detect rare and novel genetic variations. This makes genotyping arrays an indispensable tool in the ever-evolving field of genomics.