Bayesian probabilityBayesian probability (ˈbeɪziən or ˈbeɪʒən ) is an interpretation of the concept of probability, in which, instead of frequency or propensity of some phenomenon, probability is interpreted as reasonable expectation representing a state of knowledge or as quantification of a personal belief. The Bayesian interpretation of probability can be seen as an extension of propositional logic that enables reasoning with hypotheses; that is, with propositions whose truth or falsity is unknown.
Prior probabilityA prior probability distribution of an uncertain quantity, often simply called the prior, is its assumed probability distribution before some evidence is taken into account. For example, the prior could be the probability distribution representing the relative proportions of voters who will vote for a particular politician in a future election. The unknown quantity may be a parameter of the model or a latent variable rather than an observable variable.
Posterior probabilityThe posterior probability is a type of conditional probability that results from updating the prior probability with information summarized by the likelihood via an application of Bayes' rule. From an epistemological perspective, the posterior probability contains everything there is to know about an uncertain proposition (such as a scientific hypothesis, or parameter values), given prior knowledge and a mathematical model describing the observations available at a particular time.
Variant of uncertain significanceA variant of uncertain (or unknown) significance (VUS) is a genetic variant that has been identified through genetic testing but whose significance to the function or health of an organism is not known. Two related terms are "gene of uncertain significance" (GUS), which refers to a gene that has been identified through genome sequencing but whose connection to a human disease has not been established, and "insignificant mutation", referring to a gene variant that has no impact on the health or function of an organism.
ProbabilityProbability is the branch of mathematics concerning numerical descriptions of how likely an event is to occur, or how likely it is that a proposition is true. The probability of an event is a number between 0 and 1, where, roughly speaking, 0 indicates impossibility of the event and 1 indicates certainty. The higher the probability of an event, the more likely it is that the event will occur. A simple example is the tossing of a fair (unbiased) coin.
Statistical inferenceStatistical inference is the process of using data analysis to infer properties of an underlying distribution of probability. Inferential statistical analysis infers properties of a population, for example by testing hypotheses and deriving estimates. It is assumed that the observed data set is sampled from a larger population. Inferential statistics can be contrasted with descriptive statistics. Descriptive statistics is solely concerned with properties of the observed data, and it does not rest on the assumption that the data come from a larger population.
Non-Mendelian inheritanceNon-Mendelian inheritance is any pattern in which traits do not segregate in accordance with Mendel's laws. These laws describe the inheritance of traits linked to single genes on chromosomes in the nucleus. In Mendelian inheritance, each parent contributes one of two possible alleles for a trait. If the genotypes of both parents in a genetic cross are known, Mendel's laws can be used to determine the distribution of phenotypes expected for the population of offspring.
Medical classificationA medical classification is used to transform descriptions of medical diagnoses or procedures into standardized statistical code in a process known as clinical coding. Diagnosis classifications list diagnosis codes, which are used to track diseases and other health conditions, inclusive of chronic diseases such as diabetes mellitus and heart disease, and infectious diseases such as norovirus, the flu, and athlete's foot. Procedure classifications list procedure code, which are used to capture interventional data.
DiseaseA disease is a particular abnormal condition that negatively affects the structure or function of all or part of an organism and is not immediately due to any external injury. Diseases are often known to be medical conditions that are associated with specific signs and symptoms. A disease may be caused by external factors such as pathogens or by internal dysfunctions. For example, internal dysfunctions of the immune system can produce a variety of different diseases, including various forms of immunodeficiency, hypersensitivity, allergies, and autoimmune disorders.
Quantitative geneticsQuantitative genetics deals with quantitative traits, which are 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.
Inductive probabilityInductive probability attempts to give the probability of future events based on past events. It is the basis for inductive reasoning, and gives the mathematical basis for learning and the perception of patterns. It is a source of knowledge about the world. There are three sources of knowledge: inference, communication, and deduction. Communication relays information found using other methods. Deduction establishes new facts based on existing facts. Inference establishes new facts from data. Its basis is Bayes' theorem.
Medical diagnosisMedical diagnosis (abbreviated Dx, Dx, or Ds) is the process of determining which disease or condition explains a person's symptoms and signs. It is most often referred to as diagnosis with the medical context being implicit. The information required for diagnosis is typically collected from a history and physical examination of the person seeking medical care. Often, one or more diagnostic procedures, such as medical tests, are also done during the process. Sometimes the posthumous diagnosis is considered a kind of medical diagnosis.
Bayesian inferenceBayesian inference (ˈbeɪziən or ˈbeɪʒən ) is a method of statistical inference in which Bayes' theorem is used to update the probability for a hypothesis as more evidence or information becomes available. Bayesian inference is an important technique in statistics, and especially in mathematical statistics. Bayesian updating is particularly important in the dynamic analysis of a sequence of data. Bayesian inference has found application in a wide range of activities, including science, engineering, philosophy, medicine, sport, and law.
Bayesian statisticsBayesian statistics (ˈbeɪziən or ˈbeɪʒən ) is a theory in the field of statistics based on the Bayesian interpretation of probability where probability expresses a degree of belief in an event. The degree of belief may be based on prior knowledge about the event, such as the results of previous experiments, or on personal beliefs about the event. This differs from a number of other interpretations of probability, such as the frequentist interpretation that views probability as the limit of the relative frequency of an event after many trials.
Genome-wide complex trait analysisGenome-wide complex trait analysis (GCTA) Genome-based restricted maximum likelihood (GREML) is a statistical method for variance component estimation in genetics which quantifies the total narrow-sense (additive) contribution to a trait's heritability of a particular subset of genetic variants (typically limited to SNPs with MAF >1%, hence terms such as "chip heritability"/"SNP heritability").
Copenhagen interpretationThe Copenhagen interpretation is a collection of views about the meaning of quantum mechanics, stemming from the work of Niels Bohr, Werner Heisenberg, Max Born, and others. The term "Copenhagen interpretation" was apparently coined by Heisenberg during the 1950s to refer to ideas developed in the 1925–1927 period, glossing over his disagreements with Bohr. Consequently, there is no definitive historical statement of what the interpretation entails.
Conditional probabilityIn probability theory, conditional probability is a measure of the probability of an event occurring, given that another event (by assumption, presumption, assertion or evidence) has already occurred. This particular method relies on event B occurring with some sort of relationship with another event A. In this event, the event B can be analyzed by a conditional probability with respect to A. If the event of interest is A and the event B is known or assumed to have occurred, "the conditional probability of A given B", or "the probability of A under the condition B", is usually written as P(AB) or occasionally P_B(A).
Bayesian hierarchical modelingBayesian hierarchical modelling is a statistical model written in multiple levels (hierarchical form) that estimates the parameters of the posterior distribution using the Bayesian method. The sub-models combine to form the hierarchical model, and Bayes' theorem is used to integrate them with the observed data and account for all the uncertainty that is present. The result of this integration is the posterior distribution, also known as the updated probability estimate, as additional evidence on the prior distribution is acquired.
Genetic testingGenetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup.
Probability interpretationsThe word probability has been used in a variety of ways since it was first applied to the mathematical study of games of chance. Does probability measure the real, physical, tendency of something to occur, or is it a measure of how strongly one believes it will occur, or does it draw on both these elements? In answering such questions, mathematicians interpret the probability values of probability theory. There are two broad categories of probability interpretations which can be called "physical" and "evidential" probabilities.
