Fundamentals of genomics and its applications

Abstract

Genomics is the discipline that studies the structure, function, and evolution of genomes and addresses the methodological processes used tosequence and assemble the genome. Analyzing sequencing data requires state-of-the-art computational resources and specialized mathematicalalgorithms and software, which are together known as bioinformatics. The history of genome sequencing can be divided into three stages: 1)first-generation, which is based on the sequencing of a single fragment using capillary electrophoresis; 2) second generation, characterized by themass parallelization of sequencing reactions, resulting in an increase in the amount of DNA fragments sequenced with a length of 50 to 300 basepairs; and 3) third generation, which also includes the mass sequencing, but of much longer fragments (> 10000 base pairs), which facilitatesgenome assembly. Advances in massive sequencing have allowed for the sequencing of a large number of genomes, which has had broadapplications in medicine, the improvement of economically important plant and animal species, and phylogenetic studies, among many others.One of the main branches of genomics is metagenomics, which has been highly important in generating knowledge of the composition anddiversity of microorganisms in environmental samples of water, air, and other materials, facilitating the recognition of new taxa. Another branchof genomics is phylogenomics, which is used to infer the evolutionary relationships among species. Therefore, the advances in sequencingplatforms as well as advances in the area of bioinformatics have resulted in a revolution of knowledge of genome complexity