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Abstrakt

Sequencing of Personal Genomics and it’s Benefits

Altstein Heidari

Personal genomics, also known as consumer genetics, is the branch of genomics concerned with the sequencing, analysis, and interpretation of an individual's genome. During the genotyping stage, various techniques are used, such as Single-Nucleotide Polymorphism (SNP) analysis chips (typically 0.02% of the genome) or partial or full genome sequencing. Once the genotypes are determined, the individual's variations can be compared to the published literature to determine trait expression likelihood, ancestry inference, and disease risk. Personal genomics, in its most basic form, is the analysis and interpretation of information from an individual's genome. In this chapter, we broaden the definition by emphasizing three key differences between personal genomics and traditional clinical genetic testing.