Genome-Wide Association Studies & Single Nucleotide Polymorphisms
Mihir Vishwarupe 11th Grade Monta Vista High School Introduction to GWAS & SNPs This Manhattan plot represents the genes and SNPs involved in kidney stone disease, one of the diseases that can be used to be represented with GWAS. [ 4 ] Single Nucleotide Polymorphisms (SNPs) are biological markers in DNA that are associated with some diseases. SNPs are characterized as single nucleotide differences in the population that appear approximately every 300 base pairs, and can be found on either the coding or noncoding regions of a gene. [1] Genome-wide association studies, also known as GWAS, enable identification of genes associated with a particular disease (or a specific trait). The vast genome can make it difficult to understand how and where a particular hereditary-linked trait is found in the genome. Single nucleotide variations occurring in many individuals can be classified as SNPs if the variant is found in at least 1% of the population [2] . In order to comprehend