Basic knowledge of genomic analysis

Abstract

Recent advances in genome analysis technology have led to a better understanding of the pathophysiology of cancer, and cancer genome profiling tests have become clinically available. However, the results obtained by next-generation sequencers are often huge and complex, and literacy is required to interpret the results of genomic analysis. Thus, basic knowledge of genome analysis and understanding of terminologies are essential. As an example, variant allele frequencies are affected by tumor content and copy number variations in cancer cells. It is also important to note that among a number of mutations, there are driver and passenger mutations, the pathological significance of which is classified on the basis of expert knowledge. However, many mutations cannot be clearly distinguished and criteria for classification may even change according to new findings. Knowing the characteristics of genomic analysis will also help us understand the limitations of genomic tests so that we can maximize the potentials of cancer genomic medicine.