Genome assembly, or genome sequencing, refers to the process or the end
product of sequencing genomic fragments of an organism, followed by piecing
together, or ‘assembling’, in scientific terms, the genomic fragments in sequential order
to reveal the original genome sequence. To make a genome assembly usable as a
reference, annotation (i.e., assigning locations for genes along the chromosome) is also
required. The end product of genome sequencing is a complete set of nucleotide
sequence(s), of a genome in linear or circular, of DNA or RNA form, depending on the
organismic species. It represents the complete genetic makeup determining all
molecular potential, entities and activities of that organism. Similar to road maps used
for guiding traffic and for helping people to find a person living at a specific address,
genome assemblies act as genomic maps (references) to guide us to find genes (eq.
persons), regulatory elements, or mutations in specific locations in the genome.
Genome assembly aims to generate a genomic map for future studies of that organism
and other related organisms.
Keywords: De novo genome assembly, Genome assembly, Genome sequencing, Human
Genome Project, Omics era, Resequencing.