J Korean Orthop Res Soc.  2010 Jun;13(1):7-15.

Concepts of Genomic Variant Research

• Kim SY
• Kim TH

Abstract

Genetic variation occurs on many different scales, ranging from gross alteration in human chromosomes to single nucleotide changes. Approximately 99.5% of the human genome sequence is identical among humans. The 0.5% of sequence accounts for all individual differences including susceptibility for disease. In 2010 ten complete genome sequences are available. It is estimated that there are over 15 million SNPs exist in the human population. This review introduces outline of linkage study, association, and GWAS, to identify genes and biological processes underlying any trait influenced by inheritance, including human diseases. The technology of next generation sequencing, called NGS, was also introduced. The advent of NGS technologies will drive the next decades of biology and new era of personal genomics.

Keyword

Genomic variation; Linkage; Association; Next generation sequencing

MeSH Terms

Biological Processes
Biology
Chromosomes, Human
Genetic Variation
Genome
Genome, Human
Genomics
Humans
Individuality
Polymorphism, Single Nucleotide
Weights and Measures
Wills