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In genetics and bioinformatics, a single-nucleotide polymorphism (SNP / s n ɪ p /; plural SNPs / s n ɪ p s /) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently large fraction of the population (e.g. 1% or more), [ 1 ...
SNPs are one of the most common types of genetic variation. An SNP is a single base pair mutation at a specific locus, usually consisting of two alleles (where the rare allele frequency is > 1%). SNPs are found to be involved in the etiology of many human diseases and are becoming of particular interest in pharmacogenetics.
SNPs are currently the marker of choice due to their large numbers in virtually all populations of individuals. The location of these biomarkers can be tremendously important in terms of predicting functional significance, genetic mapping and population genetics. [3] Each SNP represents a nucleotide change between two individuals at a defined ...
In molecular biology, SNP array is a type of DNA microarray which is used to detect polymorphisms within a population. A single nucleotide polymorphism (SNP), a variation at a single site in DNA , is the most frequent type of variation in the genome.
Ancestry informative markers have a number of applications in genetic research, forensics, and private industry. AIMs that indicate a predisposition for diseases such as type 2 diabetes mellitus and renal disease have been shown to reduce the effects of genetic admixture in ancestral mapping when using admixture mapping software. [10]
In the field of genetic sequencing, genotyping by sequencing, also called GBS, is a method to discover single nucleotide polymorphisms (SNP) in order to perform genotyping studies, such as genome-wide association studies . [1] GBS uses restriction enzymes to reduce genome complexity and genotype multiple DNA samples. [2]
The allele frequency spectrum can be written as the vector = (,,,,), where is the number of observed sites with derived allele frequency .In this example, the observed allele frequency spectrum is (,,,,), due to four instances of a single observed derived allele at a particular SNP loci, two instances of two derived alleles, and so on.
SNPedia (pronounced "snipedia") is a wiki-based bioinformatics web site that serves as a database of single nucleotide polymorphisms (SNPs). Each article on a SNP provides a short description, links to scientific articles and personal genomics web sites, as well as microarray information about that SNP.