Exome sequencingExome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons—humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology.
Massive parallel sequencingMassive parallel sequencing or massively parallel sequencing is any of several high-throughput approaches to DNA sequencing using the concept of massively parallel processing; it is also called next-generation sequencing (NGS) or second-generation sequencing. Some of these technologies emerged between 1993 and 1998 and have been commercially available since 2005. These technologies use miniaturized and parallelized platforms for sequencing of 1 million to 43 billion short reads (50 to 400 bases each) per instrument run.
Séquençage shotgunEn génétique, le séquençage shotgun (littéralement séquençage "fusil de chasse") est une méthode utilisée pour séquencer des brins d'ADN aléatoires. On l'appelle ainsi par analogie avec le modèle de tir quasi-aléatoire en pleine expansion d'un fusil de chasse : cette métaphore illustre le caractère aléatoire de la fragmentation initiale de l'ADN génomique où l'on "arrose" tout le génome, un peu comme se dispersent les plombs de ce type d'arme à feu.
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.
Minimum viable populationMinimum viable population (MVP) is a lower bound on the population of a species, such that it can survive in the wild. This term is commonly used in the fields of biology, ecology, and conservation biology. MVP refers to the smallest possible size at which a biological population can exist without facing extinction from natural disasters or demographic, environmental, or genetic stochasticity. The term "population" is defined as a group of interbreeding individuals in similar geographic area that undergo negligible gene flow with other groups of the species.
AllèleUn allèle (abréviation d'allélomorphe) est une version d'un locus polymorphe. Il existe généralement quelques allèles pour chaque gène, mais certains gènes (par exemple ceux du CMH) possèdent plusieurs dizaines d'allèles. Les allèles d'une paire de chromosomes homologues peuvent être identiques, c'est l'homozygotie, ou différents, c'est l'hétérozygotie. C'est ainsi qu'au sein d'une même espèce, le génome d'un individu est différent de celui d'un autre individu, c'est le polymorphisme génétique.
Sanger sequencingSanger sequencing is a method of DNA sequencing that involves electrophoresis and is based on the random incorporation of chain-terminating dideoxynucleotides by DNA polymerase during in vitro DNA replication. After first being developed by Frederick Sanger and colleagues in 1977, it became the most widely used sequencing method for approximately 40 years. It was first commercialized by Applied Biosystems in 1986. More recently, higher volume Sanger sequencing has been replaced by next generation sequencing methods, especially for large-scale, automated genome analyses.
SéquençageEn biochimie, le séquençage consiste à déterminer l'ordre linéaire des composants d'une macromolécule (les acides aminés d'une protéine, les nucléotides d'un acide nucléique comme l'ADN, les monosaccharides d'un polysaccharide, etc.). En génétique, le séquençage concerne la détermination de la séquence des gènes voire des chromosomes, voire du génome complet, ce qui techniquement revient à effectuer le séquençage de l'ADN constituant ces gènes ou ces chromosomes.
Théorie des ensemblesLa théorie des ensembles est une branche des mathématiques, créée par le mathématicien allemand Georg Cantor à la fin du . La théorie des ensembles se donne comme primitives les notions d'ensemble et d'appartenance, à partir desquelles elle reconstruit les objets usuels des mathématiques : fonctions, relations, entiers naturels, relatifs, rationnels, nombres réels, complexes... C'est pourquoi la théorie des ensembles est considérée comme une théorie fondamentale dont Hilbert a pu dire qu'elle était un « paradis » créé par Cantor pour les mathématiciens.
Population structure (genetics)Population structure (also called genetic structure and population stratification) is the presence of a systematic difference in allele frequencies between subpopulations. In a randomly mating (or panmictic) population, allele frequencies are expected to be roughly similar between groups. However, mating tends to be non-random to some degree, causing structure to arise. For example, a barrier like a river can separate two groups of the same species and make it difficult for potential mates to cross; if a mutation occurs, over many generations it can spread and become common in one subpopulation while being completely absent in the other.
