Validation of Single Nucleotide Polymorphism Array Analysis with Droplet Digital PCR in Uveal Melanoma Reveals Potential for Clinical Application

A Single Nucleotide Polymorphism, or SNP, is a variation in a single nucleotide where the variation causes a significant difference within the population, this can be in the form of a disease such as cystic fibrosis. SNP arrays are a type of microarray that identifies polymorphisms within a population. This study combines SNP arrays with Copy Number Variation (CNV) analysis to analyze a series of 66 uveal melanomas and use the results with Droplet Digital PCR (ddPCR) to improve detection of malignant uveal melanoma cells. Uveal melanoma is a cancer of the eye which affects the iris, ciliary body nad choroid, these areas are collectively known as the uvea.