The genome sequence of a Korean individual (AK1) is revealed in Nature, adding further to our understanding of ethnic diversity and the individual variation underlying complex traits and disease. The five human genome sequences reported to date span three distinct geographic regions: a Yoruba African, two individuals of northwest European descent (Craig Venter and James Watson) and a person from China and from Korea.
Jeong-Sun Seo and colleagues used a combinatorial 'belt and braces' approach to carefully characterize sequence and structural variation, and then link some of these changes to medically relevant traits. In particular, they focus on single nucleotide changes or 'SNPs'. 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.
Copy number variations - differences in the number of particular DNA segments compared between individuals - are particularly carefully scrutinized in this study. Like many northeast Asians, AK1 was noted to lack the gene for the leukocyte immunoglobulin-like receptor.
It's hoped that the integration of several human whole genome sequences derived from multiple ethnic groups will assist in understanding genetic ancestry, migration patterns and population bottlenecks.
Jeong-Sun Seo (Seoul National University, Republic of Korea)
Abstract available online.
(C) Nature press release.
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