A highly annotated whole-genome sequence of a Korean individual View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2009-08

AUTHORS

Jong-Il Kim, Young Seok Ju, Hansoo Park, Sheehyun Kim, Seonwook Lee, Jae-Hyuk Yi, Joann Mudge, Neil A. Miller, Dongwan Hong, Callum J. Bell, Hye-Sun Kim, In-Soon Chung, Woo-Chung Lee, Ji-Sun Lee, Seung-Hyun Seo, Ji-Young Yun, Hyun Nyun Woo, Heewook Lee, Dongwhan Suh, Seungbok Lee, Hyun-Jin Kim, Maryam Yavartanoo, Minhye Kwak, Ying Zheng, Mi Kyeong Lee, Hyunjun Park, Jeong Yeon Kim, Omer Gokcumen, Ryan E. Mills, Alexander Wait Zaranek, Joseph Thakuria, Xiaodi Wu, Ryan W. Kim, Jim J. Huntley, Shujun Luo, Gary P. Schroth, Thomas D. Wu, HyeRan Kim, Kap-Seok Yang, Woong-Yang Park, Hyungtae Kim, George M. Church, Charles Lee, Stephen F. Kingsmore, Jeong-Sun Seo

ABSTRACT

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, known as AK1. The genome of AK1 was determined by an exacting, combined approach that included whole-genome shotgun sequencing (27.8x coverage), targeted bacterial artificial chromosome sequencing, and high-resolution comparative genomic hybridization using custom microarrays featuring more than 24 million probes. Alignment to the NCBI reference, a composite of several ethnic clades, disclosed nearly 3.45 million single nucleotide polymorphisms (SNPs), including 10,162 non-synonymous 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 for clinical considerations. Potential medical phenotypes were annotated for non-synonymous SNPs, coding domain indels, and structural variants. The integration of several human whole-genome sequences derived from several ethnic groups will assist in understanding genetic ancestry, migration patterns and population bottlenecks. More... »

PAGES

1011

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/nature08211

DOI

http://dx.doi.org/10.1038/nature08211

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1030217088

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19587683


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