Current Progress in Gene and Genome Annotation
摘要
Gene annotation and genome annotation are both terms that refer to the act of systematically locating and marking functional elements across the sequence of a genome and assigning significance to those elements. The fact that DNA sequencing results in sequences that have functionality that cannot be determined in advance is the source of the necessity. In the past three decades, progress has been made in the field of genome annotation. It used to be that each species’ genome was annotated computationally for lengthy protein-coding genes and experimentally for short regulatory elements, but now we can annotate individual nucleotides across thousands of genomes. The enhanced resolution and inclusivity of genome annotations, encompassing genotypes and phenotypes, are facilitating an accurate understanding of the biology of species, populations, and people.