

The genome sequence of a Korean individual is revealed in a paper published online today in journal Nature, adding further to our understanding of ethnic diversity and the individual variation underlying complex traits and disease. The paper is titled '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.
Jong-Il Kim and colleagues of the Seoul National University now provide a highly annotated, whole-genome sequence for a Korean individual, known as AK1.
The researchers 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. 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 scrutinised in this study. Like many NE Asians, AK1 was noted to lack the gene for the leukocyte immunoglobulin-like receptor.
The integration of several human whole-genome sequences derived from several ethnic groups will assist in understanding genetic ancestry, migration patterns and population bottlenecks.
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