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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.
In genomics, a genome-wide association study (GWA study, or GWAS), is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait. GWA studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major human diseases, but can ...
Genetic distance. Genetic distance is a measure of the genetic divergence between species or between populations within a species, whether the distance measures time from common ancestor or degree of differentiation. [ 2 ] Populations with many similar alleles have small genetic distances.
Genotype frequency in a population is the number of individuals with a given genotype divided by the total number of individuals in the population. [2] In population genetics, the genotype frequency is the frequency or proportion (i.e., 0 < f < 1) of genotypes in a population. Although allele and genotype frequencies are related, it is ...
The human germline mutation rate is approximately 0.5×10 −9 per basepair per year. [ 1 ] In genetics, the mutation rate is the frequency of new mutations in a single gene, nucleotide sequence, or organism over time. [ 2 ] Mutation rates are not constant and are not limited to a single type of mutation; there are many different types of ...
A subfield of genetics and evolutionary biology that studies genetic differences within and between populations of organisms. position effect. Any effect on the expression or functionality of a gene or sequence that is a consequence of its location or position within a chromosome or other DNA molecule.
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.
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 ...