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Allele frequency, or gene frequency, is the relative frequency of an allele (variant of a gene) at a particular locus in a population, expressed as a fraction or percentage. [1] Specifically, it is the fraction of all chromosomes in the population that carry that allele over the total population or sample size.
if the allele A frequency is denoted by the symbol p and the allele a frequency denoted by q, then p+q=1. For example, if p=0.7, then q must be 0.3. In other words, if the allele frequency of A equals 70%, the remaining 30% of the alleles must be a, because together they equal 100%. [5]
1. Introduce the reference of a SNP of interest, as an example: rs429358, in a database (dbSNP or other). 2. Find MAF/MinorAlleleCount link. MAF/MinorAlleleCount: C=0.1506/754 (1000 Genomes, where number of genomes sampled = N = 2504); [4] where C is the minor allele for that particular locus; 0.1506 is the frequency of the C allele (MAF), i.e. 15% within the 1000 Genomes database; and 754 is ...
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 ( 4 , 2 , 1 , 0 , 1 ) {\displaystyle (4,2,1,0,1)} , due to four instances of a single observed derived allele at a particular SNP loci, two ...
Punnett square for three-allele case (left) and four-allele case (right). White areas are homozygotes. Colored areas are heterozygotes. Consider an extra allele frequency, r. The two-allele case is the binomial expansion of (p + q) 2, and thus the three-allele case is the trinomial expansion of (p + q + r) 2.
If ¯ is the average frequency of an allele in the total population, is the variance in the frequency of the allele among different subpopulations, weighted by the sizes of the subpopulations, and is the variance of the allelic state in the total population, F ST is defined as [2]
In the process of substitution, a previously non-existent allele arises by mutation and undergoes fixation by spreading through the population by random genetic drift or positive selection. Once the frequency of the allele is at 100%, i.e. being the only gene variant present in any member, it is said to be "fixed" in the population. [1]
In population genetics, the Balding–Nichols model is a statistical description of the allele frequencies in the components of a sub-divided population. [1] With background allele frequency p the allele frequencies, in sub-populations separated by Wright's F ST F, are distributed according to independent draws from