Divergenome: uma plataforma bioinformática para o estudo da diversidade genética humana e aplicações na identificação de episódios de seleção natural na evolução humana

Abstract

At this work we developed a management platform for data and projects from population genetics and genetic epidemiology fields called DIVERGENOME. It is composed of two functional components: A) a relational database, which aims to safely store, organize and integrate different sources of information and datasets (available at public repositories and locally produced), as well as genetic data (genotypes and haplotypes inferred using different types of polymorphisms) and epidemiologic information (phenotypes, characterized by quantitative and qualitative variables); and B) a set of scripts written using the programming language Perl, called DIVERGENOMEtools, that enables users to handle and change file formats according to their and software required for data analysis, a step which bears several basic but error-prone tasks. Our conversion tool outlines a new strategy, graph based, that integrates the scripts available by creating dynamic conversion pipelines attempting to maximize the number of formats available and to easy incorporate new scripts to the system. A first version of DIVERGENOMEtools may be accessed at (www.cebio.org/pipelineldgh/). The different modules of our platform demonstrated to be efficient to their objective. Finally, we developed a web interface to make easy the access of all functionalities of our system.