ABSTRACT
Each individual has a unique set of genetic blueprints stored in a long and spiral-shaped molecule called deoxyribonucleic acid. The genetic blueprints are composed of linked subunits called nucleotides. Each nucleotide carries one of the four genetic codes: adenine (A), cytosine (C), guanine (G), and thymine (T). The variations of genetic codes from individual to individual (e.g., insertions, deletions, and mutations) have a major impact on genetic diseases and phenotypic differences. Therefore, correlating genetic variations with diseases or traits is the next important step in human genomics. In the following, we first introduce the related biological background to understand the problem studied in the current chapter. Then we describe a frequently encountered problem in the current experimental environment, which is the main focus of this chapter.
