Análise de dados de sequenciamento de nova geração para melhoria da saúde humana

Abstract

Next Generation Sequencing (NGS) has revolutionized scientific research, providing deeper insights into genetics and paving the way for a better understanding of individual genetic profiles, more accurate diagnoses and the development of more effective and personalized therapies. In recent years, we have witnessed remarkable advances in the field of omics sciences, driven by NGS technology. However, the integration of this technology into routine clinical practice and public health still faces significant challenges despite its numerous positive implications. In this context, this thesis is structured into chapters that explore this topic in depth. In the first chapter, a review article, submitted to the Mário Penna Journal – Molecular and Clinical Research (MPJ), addresses sequencing methods, data analysis methodologies generated by this technology and its applications in the biological and medical field. The various sequencing platforms are described in detail, ranging from the Sanger method, through technologies such as Roche/454, Illumina, Ion Torrent, ABI/SOLiD, PacBio and Oxford Nanopore. After elucidating the methodologies used by these platforms, the tools used in data analysis are presented. A step-by-step procedure is detailed that includes data quality checking, adapter removal, alignment, assembly, variant calling, and differential gene expression analysis. Furthermore, approaches such as whole genome sequencing (WGS), whole exome sequencing (WES), RNA-seq, among others, and their respective applications are discussed. In Chapter II, the published article "Identification and Characterization of MicroRNAs in Biomphalaria tenagophila and Comparative Analysis of Their Expression in Schistosoma mansoni-Resistant and -Susceptible Snail Populations" is presented. This study was conducted with the aim of investigating differences in the expression of miRNAs between susceptible and resistant snail populations, aiming to find solutions to combat schistosomiasis. Finally, in Chapter III, the article "Mitochondrial DNA Variants and OXPHOS Pathway in High-Grade Ovarian Cancer: Challenging the Metabolic Paradigm", submitted to the journal Cancer Genetics, is discussed. This work involves the use of mitochondrial DNA (mtDNA) sequencing for a comprehensive analysis of mutations present in mtDNA, with the aim of evaluating the relationship of the oxidative phosphorylation pathway with high-grade serous ovarian cancer.