SNPs occur normally throughout a person’s DNA. They occur almost once in every 1,000 nucleotides on average, which means there are roughly 4 to 5 million SNPs in a person's genome. These variations occur in many individuals; to be classified as a SNP, a variant is found in at least 1 percent of the population. Scientists have found more than 600 million SNPs in populations around the world.
SNPs research is known as Genotyping. Genotyping is a laboratory process in which an individual’s germline DNA is analyzed for SNPs. Genotyping differs from sequencing in which all of the nucleotides comprising a specific length of DNA are assessed. Genotyping is used in a number of sectors. The most important sectors are clinical research, clinical diagnostics and agriculture.
An example of the use of Genotyping in clinical research is for the purpose of Precision Medicine. This form of medicine uses information about a person’s own genes or proteins to prevent, diagnose, or treat disease. One sort of Precision Medicine is "targeted therapy to treat HER2-positive breast cancer cells by tumor marker testing." PMC
An example of the use of Genotyping in clinical diagnostics is to treat Antimicrobial Resistance. This Resistance is the developed within a disease-causing microbe. A resistant microbe has the ability to survive exposure to an antimicrobial agent that was previously an effective treatment. Antimicrobial Resistance initiates through mutation or gene transfer.
An example of the use of Genotyping in agriculture is to identify potential genes to improve crop and livestock breeding programs. Breeding complex traits and minor genetic effects with high-density markers is Genotyping. Each trait-related locus is associated with at least one marker for the purpose of choosing top-ranked lines based on individuals' genomic estimated breeding values.
SNPs research occurs with a genotyper. "Kmer-based Alignment-free Graph Genotyper, or KAGE, is a new genotyper for SNPs and short indels that builds on recent ideas of alignment-free genotyping from Malva and PanGenie for computationally efficiency. KAGE implements two novel ideas for utilizing all previously known haplotype information from repositories such as the "1000 Genomes Project" in order to improve genotyping accuracy, and speed." BMC, Genome Biology
SNPs are found in the DNA. They can act as biological markers, helping scientists locate genes that are associated with disease. When SNPs occur within a gene or in a regulatory region near a gene, they may play a more direct role in disease by affecting the gene’s functions. Research continues to identify SNPs associated with complex diseases such as heart disease, diabetes, and cancer.
