Data-driven analysis of genomic factors and gene expression for neurological disorder study

Abstract

A neurological disorder is a disease of the body nervous system caused from the structural, biochemical or electrical abnormalities in the brain, spinal cord or other nerves. It comprises brain diseases including cerebrovascular disease, a heterogeneous complex disease from the interaction between various genetic and environmental risk factors, and Parkinson’s disease, a neurodegenerative disease caused by the death of the brain cells producing dopamine molecules. To understand the underlying molecular mechanisms of neurological disorder progression and treatment, the genomic and epigenomic basis of the disease must be analyzed collectively in terms of biological function and pathway relationships. To this end, an efficient bioinformatics tools including database system integrating genetic variants and related annotation, and other informatics tools to help experimental studies or data analysis are indispensable. In this research, I conducted three bioinformatics approaches to help and contribute to the studies on the genetic and pathological mechanisms of neurological disorders in terms of the genomics, functional genomics and epigenomics layers.First, in terms of genomics for neurological disorder study, I developed SigCS base, an integrative genetic information database for human cerebrovascular disease. The genetic variants, annotations, and bibliographical information of cerebrovascular disease and its etiologies were extracted from the public resources, integrated in terms of biological function and pathway relationships, and stored into the relational database with efficient retrieval system. SigCS base allows researchers studying the mechanisms of cerebral stroke to evaluate thousands of genomic variants and genes associated with stroke and its etiologies, as well as relevant annotations. Researchers can also select candidate genes or variants for their studies, compare their genetic factors with previously reported results, and examine the pathways co...