The Seventh Ever Human Genome Sequence

In a program lead by Dr. Stephen Kingsmore and in collaboration with Seoul National University and Macrogen Inc., NCGR scientists reported the seventh ever genome sequence earlier this year. The genome was from a Korean man. The genome sequence was published in the prestigious scientific journal Nature. Unlike the previous six human genome sequences, the Korean genome sequence was completed using a combination of next-generation sequencing of random DNA fragments (shotgun sequencing), thousands of isolated genomic clones (BAC clone sequences) and the most sensitive microarrays yet developed to pick up regions of the genome that are duplicated or deleted (copy number variants). These technologies provided the most complete analysis of an individual human genome to date and yielded several surprising findings. For example, a close relationship was discovered for the first time between the frequency of the two most common types of changes in the human DNA code (single nucleotide polymorphisms or SNPs and insertion-deletion polymorphisms).