Plenary 1.3

8/31 8:00 - 10:30, Memorial Auditorium

Completing the human phyletic tetrad using a highly-annotated, whole-genome sequence of Korean Individuals

Jeong-Sun Seo

Professor of Biochemistry, Seoul National University.

Recent advances in sequencing technologies have initiated an era of personal genome sequences. To date, human genome sequences have been reported for individuals with ancestry in three distinct geographical regions: a Yoruba African, two individuals of Northwest European origin, and a person from China. Here, we provide a highly annotated, whole genome sequence for a Korean individual (AK1), representing the first Northeast Asian. The genome of AK1 was determined by an exacting, combined approach that included whole genome shotgun sequencing (27.8x coverage), targeted bacterial artificial chromosome (BAC) sequencing, and high-resolution comparative genomic hybridization (CGH) using custom microarrays featuring over 24 million probes. Alignment to the NCBI reference, a composite of multiple ethnic clades, disclosed nearly 3.45 million single nucleotide polymorphisms (SNPs) including 10,162 non-synonymous (ns) SNPs, and 170,202 deletion or insertion polymorphisms (indels). SNP and indel densities were strongly correlated genome-wide. Applying very conservative criteria yielded highly reliable copy number variants (CNVs) for clinical considerations. Potential medical phenotypes were annotated for nsSNPs, coding domain indels, and structural variants. Integration of multiple human whole genome sequences derived from multiple ethnic groups, will assist in understanding genetic ancestry, migration patterns, and population bottlenecks.

Jeong-Sun Seo