A sequence profiling tool in bioinformatics is a type of software that presents information related to a genetic sequence, gene name, or keyword input. Such tools generally take a query such as a DNA, RNA, or protein sequence or ‘keyword’ and search one or more databases for information related to that sequence. Summaries and aggregate results are provided in standardized format describing the information that would otherwise have required visits to many smaller sites or direct literature searches to compile. Many sequence profiling tools are software portals or gateways that simplify the process of finding information about a query in the large and growing number of bioinformatics databases. The access to these kinds of tools is either web based or locally downloadable executables.
The "post-genomics" era has given rise to a range of web-based tools and software to compile, organize, and deliver large amounts of primary sequence information, as well as protein structures, gene annotations, sequence alignments, and other common bioinformatics tasks.
In general, there exist three types of databases and service providers. The first one includes the popular public-domain or open-access databases supported by funding and grants such as NCBI, ExPASy, Ensembl, and PDB. The second one includes smaller or more specific databases organized and compiled by individual research groups Examples include Yeast Genome Database, RNA database. The third and final one includes private corporate or institutional databases that require payment or institutional affiliation to access. Such examples are rare given the globalization of public databases, unless the purported service is ‘in-development’ or the end point of the analysis is of commercial value.
Typical scenarios of a profiling approach become relevant, particularly, in the cases of the first two groups, where researchers commonly wish to combine information derived from several sources about a single query or target sequence.
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Un gène, du grec ancien (« génération, naissance, origine »), est, en biologie, une séquence discrète et héritable de nucléotides dont l'expression affecte les caractères d'un organisme. L'ensemble des gènes et du matériel non codant d'un organisme constitue son génome. Un gène possède donc une position donnée dans le génome d'une espèce, on parle de locus génique. La séquence est généralement formée par des désoxyribonucléotides, et est donc une séquence d'ADN (par des ribonucléotides formant de l'ARN dans le cas de certains virus), au sein d'un chromosome.
La génomique est une discipline de la biologie moderne. Elle étudie le fonctionnement d'un organisme, d'un organe, d'un cancer, etc. à l'échelle du génome, au lieu de se limiter à l'échelle d'un seul gène. La génomique se divise en deux branches : La génomique structurale, qui se charge du séquençage du génome entier ; La génomique fonctionnelle, qui vise à déterminer la fonction et l'expression des gènes séquencés en caractérisant le transcriptome et le protéome. La génomique est l'équivalent de la métabolomique pour les métabolites.
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