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Allele frequency. 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 word "allele" is a short form of "allelomorph" ("other form", a word coined by British geneticists William Bateson and Edith Rebecca Saunders) in the 1900s, [7][8] which was used in the early days of genetics to describe variant forms of a gene detected as different phenotypes. It derives from the Greek prefix ἀλληλο-, allelo ...
The upper DNA molecule differs from the lower DNA molecule at a single base-pair location (a G/A polymorphism). In genetics and bioinformatics, a single-nucleotide polymorphism (SNP / snɪp /; plural SNPs / snɪps /) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the ...
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 ...
Microevolution is the change in allele frequencies that occurs over time within a population. [1] This change is due to four different processes: mutation, selection (natural and artificial), gene flow and genetic drift. This change happens over a relatively short (in evolutionary terms) amount of time compared to the changes termed macroevolution.
The "base" allele frequencies of the example are those of the potential gamodeme: the frequency of A is p g = 0.75, while the frequency of a is q g = 0.25. [ White label " 1 " in the diagram.] Five example actual gamodemes are binomially sampled out of this base ( s = the number of samples = 5), and each sample is designated with an "index" k ...
Founder effect: The original population (left) could give rise to different founder populations (right). In population genetics, the founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population. It was first fully outlined by Ernst Mayr in 1942 ...
In population genetics, linkage disequilibrium (LD) is a measure of non-random association between segments of DNA at different positions on the chromosome in a given population based on a comparison between the frequency at which two alleles are detected together at the same loci versus the frequencies at which each allele is simply detected (alone or with the second allele) at that same loci.