For decades, high throughput technologies have successfully captured diverse genome-wide sequence information, quantitative gene expression, and regulatory information. The generation of huge volumes of data by these technologies, ‘omics’ have made remarkable contributions to building a comprehensive list of functional elements in the human genome. We are still learning how to translate these data into biological and clinical knowledge. The primary challenge at hand is determining how to connect genotype with phenotype using those data. My research contributes to this endeavor by focusing on the study of characterizing the systems-level properties and genetic/molecular basis of human disease by integrating and interpreting genomics and transcriptomics data. I am particularly interested in a bioinformatics approach in order to understand genome variation in human complex disease and develop a research infrastructure for characterizing a biological mechanism connecting genotype to phenotype with emphasis on molecular diversity increased by alternative splicing (AS).