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Infinitesimal Model
The infinitesimal model, also known as the polygenic model, is a widely used statistical model in quantitative genetics and in genome-wide association studies. Originally developed in 1918 by Ronald Fisher, it is based on the idea that variation in a quantitative trait is influenced by an infinitely large number of genes, each of which makes an infinitely small (infinitesimal) contribution to the phenotype, as well as by environmental factors. In " The Correlation between Relatives on the Supposition of Mendelian Inheritance", the original 1918 paper introducing the model, Fisher showed that if a trait is polygenic, "then the random sampling of alleles at each gene produces a continuous, normally distributed phenotype in the population". However, the model does not necessarily imply that the trait must be normally distributed, only that its genetic component will be so around the average of that of the individual's parents. The model served to reconcile Mendelian genetics w ...
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Statistical Model
A statistical model is a mathematical model that embodies a set of statistical assumptions concerning the generation of sample data (and similar data from a larger population). A statistical model represents, often in considerably idealized form, the data-generating process. A statistical model is usually specified as a mathematical relationship between one or more random variables and other non-random variables. As such, a statistical model is "a formal representation of a theory" ( Herman Adèr quoting Kenneth Bollen). All statistical hypothesis tests and all statistical estimators are derived via statistical models. More generally, statistical models are part of the foundation of statistical inference. Introduction Informally, a statistical model can be thought of as a statistical assumption (or set of statistical assumptions) with a certain property: that the assumption allows us to calculate the probability of any event. As an example, consider a pair of ordinary six ...
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Phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological properties, its behavior, and the products of behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code, or its genotype, and the influence of environmental factors. Both factors may interact, further affecting phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and then again in his 1982 book '' The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as ...
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Evolutionary Adaptation
In biology, adaptation has three related meanings. Firstly, it is the dynamic evolutionary process of natural selection that fits organisms to their environment, enhancing their evolutionary fitness. Secondly, it is a state reached by the population during that process. Thirdly, it is a phenotypic trait or adaptive trait, with a functional role in each individual organism, that is maintained and has evolved through natural selection. Historically, adaptation has been described from the time of the ancient Greek philosophers such as Empedocles and Aristotle. In 18th and 19th century natural theology, adaptation was taken as evidence for the existence of a deity. Charles Darwin proposed instead that it was explained by natural selection. Adaptation is related to biological fitness, which governs the rate of evolution as measured by change in allele frequencies. Often, two or more species co-adapt and co-evolve as they develop adaptations that interlock with those of the oth ...
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Genetic Drift
Genetic drift, also known as allelic drift or the Wright effect, is the change in the frequency of an existing gene variant (allele) in a population due to random chance. Genetic drift may cause gene variants to disappear completely and thereby reduce genetic variation. It can also cause initially rare alleles to become much more frequent and even fixed. When few copies of an allele exist, the effect of genetic drift is more notable, and when many copies exist, the effect is less notable. In the middle of the 20th century, vigorous debates occurred over the relative importance of natural selection versus neutral processes, including genetic drift. Ronald Fisher, who explained natural selection using Mendelian genetics, held the view that genetic drift plays at most a minor role in evolution, and this remained the dominant view for several decades. In 1968, population geneticist Motoo Kimura rekindled the debate with his neutral theory of molecular evolution, which claims ...
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Natural Selection
Natural selection is the differential survival and reproduction of individuals due to differences in phenotype. It is a key mechanism of evolution, the change in the heritable traits characteristic of a population over generations. Charles Darwin popularised the term "natural selection", contrasting it with artificial selection, which in his view is intentional, whereas natural selection is not. Variation exists within all populations of organisms. This occurs partly because random mutations arise in the genome of an individual organism, and their offspring can inherit such mutations. Throughout the lives of the individuals, their genomes interact with their environments to cause variations in traits. The environment of a genome includes the molecular biology in the cell, other cells, other individuals, populations, species, as well as the abiotic environment. Because individuals with certain variants of the trait tend to survive and reproduce more than individual ...
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Genetic Variance
Genetic variance is a concept outlined by the English biologist and statistician Ronald Fisher in his fundamental theorem of natural selection. In his 1930 book ''The Genetical Theory of Natural Selection'', Fisher postulates that the rate of change of biological fitness can be calculated by the genetic variance of the fitness itself. Fisher tried to give a statistical formula about how the change of fitness in a population can be attributed to changes in the allele frequency. Fisher made no restrictive assumptions in his formula concerning fitness parameters, mate choices or the number of alleles and loci Locus (plural loci) is Latin for "place". It may refer to: Entertainment * Locus (comics), a Marvel Comics mutant villainess, a member of the Mutant Liberation Front * ''Locus'' (magazine), science fiction and fantasy magazine ** '' Locus Award ... involved. Definition Phenotypic variance, usually combines the genotype variance with the environmental variance. Genetic ...
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Francis Galton
Sir Francis Galton, FRS FRAI (; 16 February 1822 – 17 January 1911), was an English Victorian era polymath: a statistician, sociologist, psychologist, anthropologist, tropical explorer, geographer, inventor, meteorologist, proto- geneticist, psychometrician and a proponent of social Darwinism, eugenics, and scientific racism. He was knighted in 1909. Galton produced over 340 papers and books. He also created the statistical concept of correlation and widely promoted regression toward the mean. He was the first to apply statistical methods to the study of human differences and inheritance of intelligence, and introduced the use of questionnaires and Statistical survey, surveys for collecting data on human communities, which he needed for genealogical and biographical works and for his anthropometrics, anthropometric studies. He was a pioneer of eugenics, coining the term itself in 1883, and also coined the phrase "nature versus nurture". His book ''Hereditary ...
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Mendelian Genetics
Mendelian inheritance (also known as Mendelism) is a type of biological inheritance following the principles originally proposed by Gregor Mendel in 1865 and 1866, re-discovered in 1900 by Hugo de Vries and Carl Correns, and later popularized by William Bateson. These principles were initially controversial. When Mendel's theories were integrated with the Boveri–Sutton chromosome theory of inheritance by Thomas Hunt Morgan in 1915, they became the core of classical genetics. Ronald Fisher combined these ideas with the theory of natural selection in his 1930 book ''The Genetical Theory of Natural Selection'', putting evolution onto a mathematical footing and forming the basis for population genetics within the modern evolutionary synthesis. History The principles of Mendelian inheritance were named for and first derived by Gregor Johann Mendel, a nineteenth-century Moravian monk who formulated his ideas after conducting simple hybridisation experiments with pea plants (''P ...
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Normal Distribution
In statistics, a normal distribution or Gaussian distribution is a type of continuous probability distribution for a real-valued random variable. The general form of its probability density function is : f(x) = \frac e^ The parameter \mu is the mean or expectation of the distribution (and also its median and mode), while the parameter \sigma is its standard deviation. The variance of the distribution is \sigma^2. A random variable with a Gaussian distribution is said to be normally distributed, and is called a normal deviate. Normal distributions are important in statistics and are often used in the natural and social sciences to represent real-valued random variables whose distributions are not known. Their importance is partly due to the central limit theorem. It states that, under some conditions, the average of many samples (observations) of a random variable with finite mean and variance is itself a random variable—whose distribution converges to a normal dist ...
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Quantitative Genetics
Quantitative genetics deals with phenotypes that vary continuously (such as height or mass)—as opposed to discretely identifiable phenotypes and gene-products (such as eye-colour, or the presence of a particular biochemical). Both branches use the frequencies of different alleles of a gene in breeding populations (gamodemes), and combine them with concepts from simple Mendelian inheritance to analyze inheritance patterns across generations and descendant lines. While population genetics can focus on particular genes and their subsequent metabolic products, quantitative genetics focuses more on the outward phenotypes, and makes only summaries of the underlying genetics. Due to the continuous distribution of phenotypic values, quantitative genetics must employ many other statistical methods (such as the ''effect size'', the ''mean'' and the ''variance'') to link phenotypes (attributes) to genotypes. Some phenotypes may be analyzed either as discrete categories or as continuo ...
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Allele
An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution. ::"The chromosomal or genomic location of a gene or any other genetic element is called a locus (plural: loci) and alternative DNA sequences at a locus are called alleles." The simplest alleles are single nucleotide polymorphisms (SNP). but they can also be insertions and deletions of up to several thousand base pairs. Popular definitions of 'allele' typically refer only to different alleles within genes. For example, the ABO blood grouping is controlled by the ABO gene, which has six common alleles (variants). In population genetics, nearly every living human's phenotype for the ABO gene is some combination of just these six alleles. Most alleles observed result in little or no change in the function of the gene product it codes for. However, ...
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Polygenic
A polygene is a member of a group of non- epistatic genes that interact additively to influence a phenotypic trait, thus contributing to multiple-gene inheritance (polygenic inheritance, multigenic inheritance, quantitative inheritance), a type of non-Mendelian inheritance, as opposed to single-gene inheritance, which is the core notion of Mendelian inheritance. The term "monozygous" is usually used to refer to a hypothetical gene as it is often difficult to distinguish the effect of an individual gene from the effects of other genes and the environment on a particular phenotype. Advances in statistical methodology and high throughput sequencing are, however, allowing researchers to locate candidate genes for the trait. In the case that such a gene is identified, it is referred to as a quantitative trait locus (QTL). These genes are generally pleiotropic as well. The genes that contribute to type 2 diabetes are thought to be mostly polygenes. In July 2016, scientists reported ide ...
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