SNU has succeeded sequencing the entire gene map of a Korean male.

Professor SEO Jeong-Sun, Head of the Genomic Medicine Institute at SNU College of Medicine, has led the research and published the result on journal Nature. The title of the paper was 'A highly annotated whole-genome sequence of a Korean individual.'

To date, human genome sequences have been reported for individuals with ancestry in three distinct geographical regions: a Yoruba African, two individuals of north-west European origin, and a person from China. SNU made the fifth human genome to be sequenced.

Seo's team has provided a highly annotated, whole-genome sequence for a Korean individual, AK1. They used a combinatorial 'belt and braces' approach to carefully characterise sequence and structural variation, and then link some of these changes to medically relevant traits.They have linked DNA variations unique to Korean to possible susceptibility to various cancers and other diseases like rheumatoid arthritis.

The research team made use of recent technical advances to home in on DNA sequences -- single nucleotide polymorphisms or SNPs -- that were unique to the man. Seo described SNPs as"the single most important source of inherited differences between human beings."

With the exception of the Yoruban genome, Korean SNP diversity was higher than that of the other sequenced genomes. SNPs linked to complex traits are highlighted, including some linked to disease, and some that could affect the efficacy, dosing or toxicity of certain drugs.

Professor Seo said that these information can help doctors make more accurate diagnoses and recommend treatment regimens more suited to the genetic makeup of the patient.

"It is important to have precise and accurate genome information of an individual since it is going to be fundamentals of personalized medicine. From this study, we found a way to obtain precise and accurate genome information," Professor Seo added.

Seo gave a prediction that in 3 to 5 years people can have a complete analysis of their genetic information in two months with the of cost of as low as 2 million won.

The researchers have since sequenced the genome of a Korean female and hope to publish their findings soon.

Professor Seo has also established"the Genome Center for 'Asian 100 Genome Project'" last month. The Center will sequence 100 Asians' gene map by 2012.

July 10, 2009
SNU PR Office