Regulation of gene expressionRegulation of gene expression, or gene regulation, includes a wide range of mechanisms that are used by cells to increase or decrease the production of specific gene products (protein or RNA). Sophisticated programs of gene expression are widely observed in biology, for example to trigger developmental pathways, respond to environmental stimuli, or adapt to new food sources. Virtually any step of gene expression can be modulated, from transcriptional initiation, to RNA processing, and to the post-translational modification of a protein.
Single-nucleotide polymorphismIn genetics and bioinformatics, a single-nucleotide polymorphism (SNP snɪp; plural SNPs snɪps) is a germline substitution of a single nucleotide at a specific position in the genome that is present in a sufficiently large fraction of considered population (generally regarded as 1% or more). For example, a G nucleotide present at a specific location in a reference genome may be replaced by an A in a minority of individuals. The two possible nucleotide variations of this SNP – G or A – are called alleles.
Gene expression profilingIn the field of molecular biology, gene expression profiling is the measurement of the activity (the expression) of thousands of genes at once, to create a global picture of cellular function. These profiles can, for example, distinguish between cells that are actively dividing, or show how the cells react to a particular treatment. Many experiments of this sort measure an entire genome simultaneously, that is, every gene present in a particular cell. Several transcriptomics technologies can be used to generate the necessary data to analyse.
Whole genome sequencingWhole genome sequencing (WGS), also known as full genome sequencing, complete genome sequencing, or entire genome sequencing, is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single time. This entails sequencing all of an organism's chromosomal DNA as well as DNA contained in the mitochondria and, for plants, in the chloroplast. Whole genome sequencing has largely been used as a research tool, but was being introduced to clinics in 2014.
Receiver operating characteristicA receiver operating characteristic curve, or ROC curve, is a graphical plot that illustrates the diagnostic ability of a binary classifier system as its discrimination threshold is varied. The ROC curve is the plot of the true positive rate (TPR) against the false positive rate (FPR), at various threshold settings. The ROC can also be thought of as a plot of the power as a function of the Type I Error of the decision rule (when the performance is calculated from just a sample of the population, it can be thought of as estimators of these quantities).
Precision and recallIn pattern recognition, information retrieval, object detection and classification (machine learning), precision and recall are performance metrics that apply to data retrieved from a collection, corpus or sample space. Precision (also called positive predictive value) is the fraction of relevant instances among the retrieved instances. Written as a formula:. Recall (also known as sensitivity) is the fraction of relevant instances that were retrieved. Written as a formula: . Both precision and recall are therefore based on relevance.
Fourier transformIn physics and mathematics, the Fourier transform (FT) is a transform that converts a function into a form that describes the frequencies present in the original function. The output of the transform is a complex-valued function of frequency. The term Fourier transform refers to both this complex-valued function and the mathematical operation. When a distinction needs to be made the Fourier transform is sometimes called the frequency domain representation of the original function.
Hilbert transformIn mathematics and signal processing, the Hilbert transform is a specific singular integral that takes a function, u(t) of a real variable and produces another function of a real variable H(u)(t). The Hilbert transform is given by the Cauchy principal value of the convolution with the function (see ). The Hilbert transform has a particularly simple representation in the frequency domain: It imparts a phase shift of ±90° ( radians) to every frequency component of a function, the sign of the shift depending on the sign of the frequency (see ).
Confusion matrixIn the field of machine learning and specifically the problem of statistical classification, a confusion matrix, also known as error matrix, is a specific table layout that allows visualization of the performance of an algorithm, typically a supervised learning one; in unsupervised learning it is usually called a matching matrix. Each row of the matrix represents the instances in an actual class while each column represents the instances in a predicted class, or vice versa – both variants are found in the literature.
