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Functional annotation of genes requires a controlled vocabulary (or ontology) to name the predicted functional features. However, because there are numerous ways to define gene functions, the annotation process may be hindered when it is performed by different research groups.
Knowledge base annotation is done based on the information of gene attribute, protein function and its metabolism. In this type of annotation more emphasis is given to genetic variation that disrupts the protein function domain, protein-protein interaction and biological pathway.
The Gene Ontology (GO) is a major bioinformatics initiative to unify the representation of gene and gene product attributes across all species. [1] More specifically, the project aims to: 1) maintain and develop its controlled vocabulary of gene and gene product attributes; 2) annotate genes and gene products, and assimilate and disseminate annotation data; and 3) provide tools for easy access ...
Gene prediction is one of the key steps in genome annotation, following sequence assembly, the filtering of non-coding regions and repeat masking. [3] Gene prediction is closely related to the so-called 'target search problem' investigating how DNA-binding proteins (transcription factors) locate specific binding sites within the genome.
Gene-based annotation to identify exonic/splicing variants of the combination of SNVs and indels (~4.7 million variants) where a total of 24,617 exonic variants are identified. [1] Since Miller syndrome is a rare Mendelian disease, exonic protein-changing variants are of interest only, which makes up 11,166. [1]
Since the 1980s, molecular biology and bioinformatics have created the need for DNA annotation. DNA annotation or genome annotation is the process of identifying attaching biological information to sequences, and particularly in identifying the locations of genes and determining what those genes do.
DNA annotation or genome annotation is the process of identifying the locations of genes and all of the coding regions in a genome and determining what those genes do. An annotation (irrespective of the context) is a note added by way of explanation or commentary. Once a genome is sequenced, it needs to be annotated to make sense of it. [49]
In bioinformatics, the general feature format (gene-finding format, generic feature format, GFF) is a file format used for describing genes and other features of DNA, RNA and protein sequences. GFF Versions