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In genetics, a centimorgan (abbreviated cM) or map unit (m.u.) is a unit for measuring genetic linkage. It is defined as the distance between chromosome positions (also termed loci or markers) for which the expected average number of intervening chromosomal crossovers in a single generation is 0.01. It is often used to infer distance along a ...
Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics , cytogenetics , molecular genetics , biochemical genetics , genomics , population genetics , developmental genetics , clinical genetics , and genetic counseling .
A haplotype is a group of alleles in an organism that are inherited together from a single parent, [1] [2] and a haplogroup (haploid from the Greek: ἁπλοῦς, haploûs, "onefold, simple" and English: group) is a group of similar haplotypes that share a common ancestor with a single-nucleotide polymorphism mutation. [3]
For example in human genetics, genome-wide association studies collect genotypes in thousands of individuals at between 200,000-5,000,000 SNPs using microarrays. Haplotype estimation methods are used in the analysis of these datasets and allow genotype imputation [ 1 ] [ 2 ] of alleles from reference databases such as the HapMap Project and the ...
(b) Counts of haplogroups in table format. For populations details, see 1000 Genomes Project#Human genome samples. In human genetics, a human mitochondrial DNA haplogroup is a haplogroup defined by differences in human mitochondrial DNA. Haplogroups are used to represent the major branch points on the mitochondrial phylogenetic tree.
In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by specific mutations in the non-recombining portions of DNA on the male-specific Y chromosome (Y-DNA). Individuals within a haplogroup share similar numbers of short tandem repeats (STRs) and single-nucleotide polymorphisms (SNPs). [ 2 ]
Coalescent theory, a retrospective model of population genetics; Crown group; Genealogy, the study of families and the tracing of their lineages and history; Genetic distance, the genetic divergence between species or between populations within a species; Lowest common ancestor, an analogous concept in graph theory and computer science
Two fundamental calculations are central to population genetics: allele frequencies and genotype frequencies. [1] 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 ]