|Annotation||The process of attaching additional information to biological entities. Annotation can be structural (i.e. identification of the elements from a sequence, such as protein coding regions or the location of regulatory motifs) or functional (i.e. adding biological information to the identified elements, such as the biological function of a protein domain or an entire protein, or the molecular interactions or regulatory role of a nucleotide sequence). Annotation can either be applied automatically or can be manually added (in a process called 'curation') from various sources, such as the scientific literature. At EMBL-EBI, we use a combination of automatic and manual annotation to enrich our databases. Annotation can either be applied automatically or it can be curated (manually) from the scientific literature. At EMBL-EBI, we use a combination of automatic and manual annotation to enrich our databases. |
|Copy number variations ||Are alterations of the DNA of a genome that results in the cell having an abnormal number of copies of one or more sections of the DNA. Copy number variations can encompass genes leading to dosage imbalances. |
|EGA||European Genome-phenome Archive. A repository for genotype experiments, including information such as population and family studies. http://www.ebi.ac.uk/ega/page.php |
|EMBL-Bank||The EBI’s database of nucleotide sequences. A member of the International Sequence Database Collaboration (www.insdc.org), EMBL-Bank exchanges data every 24 hours with the other INSDC databases to ensure that they are all comprehensive and up to date. EMBL-Bank can be accessed from www.ebi.ac.uk/embl/ |
|Ensembl||Ensembl is a joint project between the EMBL-EBI and the Wellcome Trust Sanger Institute that aims to develop a system that maintains automatic annotation of large eukaryotic genomes. All the software and data are free to access without any constraints. The project is primarily funded by the Wellcome Trust. It is a comprehensive source of stable annotation with confirmed gene predictions that have been integrated from external data sources. Ensembl annotates known genes and predicts new ones, with functional annotation from InterPro, OMIM, SAGE and gene families. |
|Ensembl Genomes||The Ensembl Genomes resource is a collection of five portals for genome-scale data: Ensembl Bacteria, Protists, Fungi, Plants and Metazoa. The resources uses the Ensembl software suite for genome analysis and browsing. |
|Ensembl release||An update of selected Ensembl data sets, the browser, and underlying databases. This occurs every 2-3 months and allows for new genomes, new gene sets, and the latest improvements in scientific databases to be incorporated into Ensembl. |
|Epistasis||A genetic interaction where one or more genes can modify the expression of another gene and therefore its phenotype, when the two genes are not alternate alleles of the same phenotype. The gene which regulates this change is called the epistatic gene and the altered gene is said to be hypostatic. |
|European Nucleotide Archive||The European Nucleotide Archive (ENA) is a comprehensive databank of primary nucleotide sequence information. ENA provides access to both assembled sequence and unassembled (raw) sequence reads, but places them in separate databases in order to optimise accessibility and analysis. http://www.ebi.ac.uk/ena/
|Heterosis||A genetic phenomenon that describes the effects of the improved or increased function of any biological quality due to selective breeding to generate offsprings that are genetically superior to their parents. |
|Metazoa||Multicellular, eukaryotic animals |
|Pleiotropy||A phenomenon that describes the effect of a single gene on multiple phenotypic traits. The underlying mechanism is that the gene codes for a product that, for example, has a signaling function on various targets. |
|Sequence Read Archive||Reads of raw data consisting of short, unassembled fragments of sequence generated using Next Generation sequencing technology.
|chordate||A member of the phylum Chordata. Has a notochord (a flexible, rod-like structure that acts as the main support for the body) at some stage of development. For vertebrates, this notochord becomes the vertebral spine.
|gene||A molecular unit of heredity of a living organism. Genes hold the information to build and maintain an organism's cells and pass genetic traits to offspring. All organisms have many genes corresponding to various biological traits, some of which are immediately visible, such as eye color or number of limbs, and some of which are not, such as blood type or increased risk for specific diseases, or the thousands of basic biochemical processes that comprise life. |
|gene regulation||Includes the processes that cells and viruses use to regulate the way that the information in genes is turned into gene products.
Gives the cell control over structure and function, and is the basis for cellular differentiation, morphogenesis and the versatility and adaptability of any organism.
|single nucleotide polymorphism||A single base pair of DNA that is polymorphic (has alternate alleles) with respect to a population. |