Chapter 4 - Genome assembly and annotation

Abstract

To understand the complexity among various organisms, there is a need to sequence the genome of a particular organism. The aligned and merged fragments are called assembly that comes from a longer DNA sequence to reconstruct the original sequence. Based on the availability or unavailability of reference genome, genome assembly approaches are of two types. Genome assembly plays a vital role in predicting the behavior of organisms in terms of structure and function of genes. Nowadays important plant and animal species are sequenced using next-generation high-throughput sequencing platforms. These sequencing platforms generate huge amounts of biological data in different file formats, which can be further analyzed using various computational tools. Several pipelines, tools, and algorithms are available to assemble and analyze the genome computationally. The study of the genome is relevant for various fields of research, including genomic selection, genome comparison, drug and agro-chemical design, cancer mechanism, and ancestry identification. In this chapter, we focused on various genome assembly approaches, such as de novo assembly and reference-based assembly, prediction of genes, and their structures and functions using computational tools and software.