Abril, JF; Castellano Hereza, S; (2019) Genome Annotation. In: Ranganathan, S and Gribskov, M and Schönbach, C, (eds.) Encyclopedia of Bioinformatics and Computational Biology. (pp. 195-209). Elsevier: Amsterdam, Netherlands.

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Abstract

Genome annotation is the process of identifying functional elements along the sequence of a genome, thus giving meaning to it. It is necessary because the sequencing of DNA produces sequences of unknown function. In the last three decades, genome annotation has evolved from the computational annotation of long protein-coding genes on single genomes (one per species), and the experimental annotation of short regulatory elements on a small number of them, into the population annotation of sole nucleotides on thousands of individual genomes (many per species). This increased resolution and inclusiveness of genome annotations (from genotypes to phenotypes) is leading to precise insights into the biology of species, populations and individuals alike.

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