Tools and Techniques for Whole-Genome Alignments

Khushboo Upadhyay

Abstract

The prediction of evolutionary relationships between two or more genomes at the nucleotide level is known as whole-genome alignment (WGA). It possesses characteristics of both gene orthology prediction and collinear sequence alignment. WGAs are useful for genome-wide analyses like phylogenetic inference, genome annotation, and function prediction. So many solutions have been developed despite the fact that this problem is difficult. This article provides an overview of the approaches used to address WGA as well as a discussion of its significance and meaning. We also look at the issue of evaluating whole-genome aligners and provide a list of methodological issues that must be resolved in order to make the best use of our whole-genome databases, which are rapidly expanding. For the first time, two significant vertebrate genomes could be compared and aligned thanks to the availability of the assembled mouse genome. We looked into various alignment techniques that work well for assemblies of varying quality in order to analyse the conservation of genomes later on. These methods were used to compare the mouse genome sequencing consortium assembly and other preliminary mouse assemblies with the working draught of the human genome. Our techniques are quick, and the resulting alignments have a high level of sensitivity, covering more than 90% of the human genome’s recognised coding exons. We managed to achieve this coverage while maintaining specificity.

Abstract

Keywords