Developing automated pipeline for identifying disease-related genomic variants

Summary form only given. Advances in Next-Generation Sequencing technologies have opened unprecedented opportunities for identifying disease-associated genetic variations using whole genome / whole exome sequencing data. Precisely detecting all disease-related variants using computational tools is important but challenging. Presently such software tools have not been well developed. It is difficult to comprehensively and exactly capture genomic variations for systematic understanding of complex disease initialization and progression, such as cancer.