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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 ...
A single nucleotide polymorphism (SNP), a variation at a single site in DNA, is the most frequent type of variation in the genome. Around 335 million SNPs have been identified in the human genome , [ 1 ] 15 million of which are present at frequencies of 1% or higher across different populations worldwide.
In simple words, the term polymorphism was originally used to describe variations in shape and form that distinguish normal individuals within a species from each other. Presently, geneticists use the term genetic polymorphism to describe the functionally silent differences in DNA sequence between individuals that make each human genome unique.
In this context pleiotropy refers to the influence that a specific genetic variant, e.g., a single nucleotide polymorphism or SNP, has on two or more distinct traits. Genome-wide association studies (GWAS) and machine learning analysis of large genomic datasets have led to the construction of SNP based polygenic predictors for human traits such ...
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]
In these cases, the entire sequence can be grouped into a simple evolutionary tree, with each branch founded by a unique-event polymorphism mutation (often, but not always, a single-nucleotide polymorphism (SNP)). Each clade under a branch, containing haplotypes with a single shared ancestor, is called a haplogroup. [8] [9] [10]
Marker assisted selection or marker aided selection (MAS) is an indirect selection process where a trait of interest is selected based on a marker (morphological, biochemical or DNA/RNA variation) linked to a trait of interest (e.g. productivity, disease resistance, abiotic stress tolerance, and quality), rather than on the trait itself.
SNP genotyping is the measurement of genetic variations of single nucleotide polymorphisms (SNPs) between members of a species. It is a form of genotyping, which is the measurement of more general genetic variation. SNPs are one of the most common types of genetic variation.