APPLICATION OF SOMATIC VARIANT ANALYSIS IN CANCER EXOMES

Abstract

As the use of whole-exome sequencing is becoming increasingly prevalent, two natural questions arises: One is how to process and analyze the ever growing volume of sequencing data generated and the other is how to apply the results of the analysis to cancer research. To start to answer the former, a general single nucleotide variant discovery pipeline is proposed to process and analyze whole-exome data. To start answering the latter question, three published studies will illustrate three possible applications of whole-exome sequencing. The first study highlights a collaborative application of bioinformatics with experimental biology where bioinformatics quickly predicts the functional consequences of a mutation and presents high confidence hypothesis for experimental biologists to consider. The second study highlights the medical translational application of whole-exome sequencing and analysis. The final study highlights the application of whole-exome analysis in opening new avenues of research not previously considered under hypothesis-driven approaches.