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  2. Mutation rate - Wikipedia

    en.wikipedia.org/wiki/Mutation_rate

    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 mutations.

  3. Mutation–selection balance - Wikipedia

    en.wikipedia.org/wiki/Mutation–selection_balance

    The frequency = + of normal alleles A increases at rate / due to the selective elimination of recessive homozygotes, while mutation causes to decrease at rate (ignoring back mutations). Mutation–selection balance then gives p B B = μ / s {\displaystyle p_{BB}=\mu /s} , and so the frequency of deleterious alleles is q = μ / s {\displaystyle ...

  4. Mutation frequency - Wikipedia

    en.wikipedia.org/wiki/Mutation_frequency

    Mutation frequencies test are cost effective in laboratories [1] however; these two concepts provide vital information in reference to accounting for the emergence of mutations on any given germ line. [2] [3] There are several test utilized in measuring the chances of mutation frequency and rates occurring in a particular gene pool.

  5. Single-nucleotide polymorphism - Wikipedia

    en.wikipedia.org/wiki/Single-nucleotide_polymorphism

    The OMIM database describes the association between polymorphisms and diseases (e.g., gives diseases in text form) dbSAP – single amino-acid polymorphism database for protein variation detection [59] The Human Gene Mutation Database provides gene mutations causing or associated with human inherited diseases and functional SNPs

  6. Somatic mutation - Wikipedia

    en.wikipedia.org/wiki/Somatic_mutation

    The disparity in mutation rate between the germline and somatic tissues likely reflects the greater importance of genetic integrity in the germline than in the soma. [12] Variation in mutation frequency may be due to differences in rates of DNA damage or to differences in the DNA repair process as a result of elevated levels of DNA repair enzymes.

  7. Genome instability - Wikipedia

    en.wikipedia.org/wiki/Genome_instability

    An average cancer of the breast or colon can have about 60 to 70 protein altering mutations, of which about 3 or 4 may be "driver" mutations, and the remaining ones may be "passenger" mutations [17] Any genetic or epigenetic lesion increasing the mutation rate will have as a consequence an increase in the acquisition of new mutations ...

  8. Mutation - Wikipedia

    en.wikipedia.org/wiki/Mutation

    The rate of de novo mutations, whether germline or somatic, vary among organisms. [103] Individuals within the same species can even express varying rates of mutation. [104] Overall, rates of de novo mutations are low compared to those of inherited mutations, which categorizes them as rare forms of genetic variation. [105]

  9. Watterson estimator - Wikipedia

    en.wikipedia.org/wiki/Watterson_estimator

    It is a measure of the "population mutation rate" (the product of the effective population size and the neutral mutation rate) from the observed nucleotide diversity of a population. θ = 4 N e μ {\displaystyle \theta =4N_{e}\mu } , [ 3 ] where N e {\displaystyle N_{e}} is the effective population size and μ {\displaystyle \mu } is the per ...