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The study of human genetic variation has evolutionary significance and medical applications. It can help scientists reconstruct and understand patterns of past human migration. In medicine, study of human genetic variation may be important because some disease-causing alleles occur more often in certain population groups.
Genetic variation can be identified at many levels. Identifying genetic variation is possible from observations of phenotypic variation in either quantitative traits (traits that vary continuously and are coded for by many genes, e.g., leg length in dogs) or discrete traits (traits that fall into discrete categories and are coded for by one or a few genes, e.g., white, pink, or red petal color ...
Genetic diversity. A graphical representation of the typical human karyotype. Genetic diversity is the total number of genetic characteristics in the genetic makeup of a species. It ranges widely, from the number of species to differences within species, and can be correlated to the span of survival for a species. [1]
Genetics is the study of genes, genetic variation, and heredity in organisms. [1][2][3] It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically.
Molecular phylogenetics (/ məˈlɛkjʊlər ˌfaɪloʊdʒəˈnɛtɪks, mɒ -, moʊ -/ [1][2]) is the branch of phylogeny that analyzes genetic, hereditary molecular differences, predominantly in DNA sequences, to gain information on an organism's evolutionary relationships. From these analyses, it is possible to determine the processes by which ...
Genetic variability is either the presence of, or the generation of, genetic differences. It is defined as "the formation of individuals differing in genotype, or the presence of genotypically different individuals, in contrast to environmentally induced differences which, as a rule, cause only temporary, nonheritable changes of the phenotype." [1]
Human evolutionary genetics. Human evolutionary genetics studies how one human genome differs from another human genome, the evolutionary past that gave rise to the human genome, and its current effects. Differences between genomes have anthropological, medical, historical and forensic implications and applications.
Copy number variation is a type of structural variation: specifically, it is a type of duplication or deletion event that affects a considerable number of base pairs. [2] Approximately two-thirds of the entire human genome may be composed of repeats [3] and 4.8–9.5% of the human genome can be classified as copy number variations. [4]