Complex Segregation Analysis
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Complex Segregation Analysis
Complex segregation analysis (CSA) is a technique within genetic epidemiology to determine whether there is evidence that a major gene underlies the distribution of a given phenotypic trait. CSA also provides evidence to whether the implicated trait is inherited in a Mendelian dominant, recessive, or codominant manner. Purpose of CSA CSA is often a preliminary step in genetic epidemiology. The purpose of CSA is to provide initial evidence that a single gene has a major effect on a particular phenotypic trait. Only phenotypic information, not genotypic information, is required for CSA. CSA can provide evidence, but not definitively prove a trait is under the control of a single gene. Evidence from CSA studies can be used to justify which phenotypes might be appropriate for more in-depth studies such as linkage analysis. Study design and data analysis CSA requires phenotypic information on family members in a pedigree. A variety of models with different parameters and assum ...
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Genetic Epidemiology
Genetic epidemiology is the study of the role of genetic factors in determining health and disease in families and in populations, and the interplay of such genetic factors with environmental factors. Genetic epidemiology seeks to derive a statistical and quantitative analysis of how genetics work in large groups. Definition The use of the term ''Genetic epidemiology'' emerged in the mid-1980s as a new scientific field. In formal language, genetic epidemiology was defined by Newton Morton, one of the pioneers of the field, as "a science which deals with the etiology, distribution, and control of disease in groups of relatives and with inherited causes of disease in populations". It is closely allied to both molecular epidemiology and statistical genetics, but these overlapping fields each have distinct emphases, societies and journals. One definition of the field closely follows that of behavior genetics, defining genetic epidemiology as "the scientific discipline that deals w ...
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Heredity
Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents. Through heredity, variations between individuals can accumulate and cause species to evolve by natural selection. The study of heredity in biology is genetics. Overview In humans, eye color is an example of an inherited characteristic: an individual might inherit the "brown-eye trait" from one of the parents. Inherited traits are controlled by genes and the complete set of genes within an organism's genome is called its genotype. The complete set of observable traits of the structure and behavior of an organism is called its phenotype. These traits arise from the interaction of its genotype with the environment. As a result, many aspects of an organism's phenotype are not inherited. For example, suntanned skin ...
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Genetic Segregation
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 pla ...
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Genetic Epidemiology
Genetic epidemiology is the study of the role of genetic factors in determining health and disease in families and in populations, and the interplay of such genetic factors with environmental factors. Genetic epidemiology seeks to derive a statistical and quantitative analysis of how genetics work in large groups. Definition The use of the term ''Genetic epidemiology'' emerged in the mid-1980s as a new scientific field. In formal language, genetic epidemiology was defined by Newton Morton, one of the pioneers of the field, as "a science which deals with the etiology, distribution, and control of disease in groups of relatives and with inherited causes of disease in populations". It is closely allied to both molecular epidemiology and statistical genetics, but these overlapping fields each have distinct emphases, societies and journals. One definition of the field closely follows that of behavior genetics, defining genetic epidemiology as "the scientific discipline that deals w ...
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Goodness Of Fit
The goodness of fit of a statistical model describes how well it fits a set of observations. Measures of goodness of fit typically summarize the discrepancy between observed values and the values expected under the model in question. Such measures can be used in statistical hypothesis testing, e.g. to test for normality of residuals, to test whether two samples are drawn from identical distributions (see Kolmogorov–Smirnov test), or whether outcome frequencies follow a specified distribution (see Pearson's chi-square test). In the analysis of variance, one of the components into which the variance is partitioned may be a lack-of-fit sum of squares. Fit of distributions In assessing whether a given distribution is suited to a data-set, the following tests and their underlying measures of fit can be used: * Bayesian information criterion *Kolmogorov–Smirnov test *Cramér–von Mises criterion *Anderson–Darling test * Shapiro–Wilk test *Chi-squared test *Akaike informat ...
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Coefficients
In mathematics, a coefficient is a multiplicative factor in some term of a polynomial, a series, or an expression; it is usually a number, but may be any expression (including variables such as , and ). When the coefficients are themselves variables, they may also be called parameters. For example, the polynomial 2x^2-x+3 has coefficients 2, −1, and 3, and the powers of the variable x in the polynomial ax^2+bx+c have coefficient parameters a, b, and c. The constant coefficient is the coefficient not attached to variables in an expression. For example, the constant coefficients of the expressions above are the number 3 and the parameter ''c'', respectively. The coefficient attached to the highest degree of the variable in a polynomial is referred to as the leading coefficient. For example, in the expressions above, the leading coefficients are 2 and ''a'', respectively. Terminology and definition In mathematics, a coefficient is a multiplicative factor in some term of a ...
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Maximum Likelihood
In statistics, maximum likelihood estimation (MLE) is a method of estimation theory, estimating the Statistical parameter, parameters of an assumed probability distribution, given some observed data. This is achieved by Mathematical optimization, maximizing a likelihood function so that, under the assumed statistical model, the Realization (probability), observed data is most probable. The point estimate, point in the parameter space that maximizes the likelihood function is called the maximum likelihood estimate. The logic of maximum likelihood is both intuitive and flexible, and as such the method has become a dominant means of statistical inference. If the likelihood function is Differentiable function, differentiable, the derivative test for finding maxima can be applied. In some cases, the first-order conditions of the likelihood function can be solved analytically; for instance, the ordinary least squares estimator for a linear regression model maximizes the likelihood when ...
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Heritability
Heritability is a statistic used in the fields of breeding and genetics that estimates the degree of ''variation'' in a phenotypic trait in a population that is due to genetic variation between individuals in that population. The concept of heritability can be expressed in the form of the following question: "What is the proportion of the variation in a given trait within a population that is ''not'' explained by the environment or random chance?" Other causes of measured variation in a trait are characterized as environmental factors, including observational error. In human studies of heritability these are often apportioned into factors from "shared environment" and "non-shared environment" based on whether they tend to result in persons brought up in the same household being more or less similar to persons who were not. Heritability is estimated by comparing individual phenotypic variation among related individuals in a population, by examining the association between ind ...
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Environment (biophysical)
A biophysical environment is a biotic and abiotic surrounding of an organism or population, and consequently includes the factors that have an influence in their survival, development, and evolution. A biophysical environment can vary in scale from microscopic to global in extent. It can also be subdivided according to its attributes. Examples include the marine environment, the atmospheric environment and the terrestrial environment. The number of biophysical environments is countless, given that each living organism has its own environment. The term ''environment'' can refer to a singular global environment in relation to humanity, or a local biophysical environment, e.g. the UK's Environment Agency. Life-environment interaction All life that has survived must have adapted to the conditions of its environment. Temperature, light, humidity, soil nutrients, etc., all influence the species within an environment. However, life in turn modifies, in various forms, its conditions. ...
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Conceptual Model
A conceptual model is a representation of a system. It consists of concepts used to help people knowledge, know, understanding, understand, or simulation, simulate a subject the model represents. In contrast, physical models are physical object such as a toy model that may be assembled and made to work like the object it represents. The term may refer to models that are formed after a wikt:concept#Noun, conceptualization or generalization process. Conceptual models are often abstractions of things in the real world, whether physical or social. Semantics, Semantic studies are relevant to various stages of process of concept formation, concept formation. Semantics is basically about concepts, the meaning that thinking beings give to various elements of their experience. Overview Models of concepts and models that are conceptual The term ''conceptual model'' is normal. It could mean "a model of concept" or it could mean "a model that is conceptual." A distinction can be made bet ...
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Gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ...
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Pedigree Chart
A pedigree chart is a diagram that shows the occurrence and appearance of phenotypes of a particular gene or organism and its ancestors from one generation to the next, most commonly humans, show dogs, and race horses. Definition The word pedigree is a corruption of the Anglo-Norman French ''pé de grue'' or "crane's foot", either because the typical lines and split lines (each split leading to different offspring of the one parent line) resemble the thin leg and foot of a crane or because such a mark was used to denote succession in pedigree charts. A pedigree results in the presentation of family information in the form of an easily readable chart. It can be simply called as a "family tree". Pedigrees use a standardized set of symbols, squares represent males and circles represent females. Pedigree construction is a family history, and details about an earlier generation may be uncertain as memories fade. If the sex of the person is unknown a diamond is used. Someone with the ph ...
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