Interactive view of 220 human multigene families spread across human genome available at PAHG database

Abstract

The Phylogenomic Analysis of Human Genome (PAHG) is an inclusive database having evolutionary data of 220 multigene families. It provides insights about the evolutionary processes which formulated current human genome utilizing synteny analysis, comparisons of tree topology and relative datings to provide understanding about the evolutionary processes. The database has a basic and simple homepage leaving room for responsive and interactive interface that would present all data instantaneously. An interface that would allow the freedom of in-depth mining of information with just one click. Circos tool was employed to present all 1244 gene members of 220 multigene families available in the database. The tool was responsible for providing circular ideogram of human karyotype, including all chromosomes, that would depict relationships among different paralogy blocks and would show the location of all 1244 gene members spread across the genome. Along with Circos, image maps and a jQuery plugin were employed to formulate a smooth and uninterrupted user experience. Image maps provided interactivity to the image i.e. clickable areas or hotspots were traced by using image maps, while responsiveness that is functionally working image on any type of screen, was made possible by deploying rwdImageMap jQuery plugin. In addition to development of a Circos based paralogy block platform in the present thesis, 29 new multigene human families were identified through rigorous analysis of genome maps and gene family information available at Ensembl and other relevant genomes browsers. Among 29 families, NSD family was analyzed using synteny analyses, relative dating, topology comparison approach, and phylgenomic analyses. So conclusively in the present thesis, the research is carried out to not only facilitate data mining in PAHG but also add list of novel families in the PAHG database.