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In molecular biology and genetics, DNA annotation or genome annotation is the process of describing the structure and function of the components of a genome, [2] by analyzing and interpreting them in order to extract their biological significance and understand the biological processes in which they participate. [3]
Sequence assembly refers to the reconstruction of a DNA sequence by aligning and merging small DNA fragments. It is an integral part of modern DNA sequencing. Since presently-available DNA sequencing technologies are ill-suited for reading long sequences, large pieces of DNA (such as genomes) are often sequenced by (1) cutting the DNA into ...
The DNA sequence assembly alone is of little value without additional analysis. [9] Genome annotation is the process of attaching biological information to sequences, and consists of three main steps: [68] identifying portions of the genome that do not code for proteins; identifying elements on the genome, a process called gene prediction, and
Association mapping has been most widely applied to the study of human disease, specifically in the form of a genome-wide association study (GWAS). A genome-wide association study is performed by scanning an entire genome for SNPs associated with a particular trait of interest, or in the case of human disease, with a particular disease of interest.
Ab Initio gene prediction is an intrinsic method based on gene content and signal detection. Because of the inherent expense and difficulty in obtaining extrinsic evidence for many genes, it is also necessary to resort to ab initio gene finding, in which the genomic DNA sequence alone is systematically searched for certain tell-tale signs of protein-coding genes.
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 ...
Illustrations are also downloadable as PowerPoint slides. These files can be easily copied and pasted into any existing PowerPoint presentation or can serve as a starting point for a new presentation. These slides are designed to provide lecturers with an easy-to-use and convenient source of illustrations for genetic terms and concepts.
These sequences can then be aligned to a reference genome sequence to reconstruct which genome regions were being transcribed. This data can be used to annotate where expressed genes are, their relative expression levels, and any alternative splice variants.