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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.
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 ...
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 ...
Mutation will have a very subtle effect on allele frequencies through the introduction of new allele into a population. Mutation rates are of the order 10 −4 to 10 −8, and the change in allele frequency will be, at most, the same order. Recurrent mutation will maintain alleles in the population, even if there is strong selection against them.
where and are the allele frequencies of and , respectively. It is also the probability that at any locus , two alleles from a random individual of the population are identical by descent . For example, consider the data from E.B. Ford (1971) on a single population of the scarlet tiger moth :
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 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