A highly annotated whole-genome sequence of a Korean individual Export

@article{citeulike:5103484, 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 China1, 2, 3, 4. 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 (27.8 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 clades5, 6, 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.}, author = {Kim, Jong-Il and Ju, Young S. and Park, Hansoo and Kim, Sheehyun and Lee, Seonwook and Yi, Jae-Hyuk and Mudge, Joann and Miller, Neil A. and Hong, Dongwan and Bell, Callum J. and Kim, Hye-Sun and Chung, In-Soon and Lee, Woo-Chung and Lee, Ji-Sun and Seo, Seung-Hyun and Yun, Ji-Young and Woo, Hyun N. and Lee, Heewook and Suh, Dongwhan and Lee, Seungbok and Kim, Hyun-Jin and Yavartanoo, Maryam and Kwak, Minhye and Zheng, Ying and Lee, Mi K. and Park, Hyunjun and Kim, Jeong Y. and Gokcumen, Omer and Mills, Ryan E. and Zaranek, Alexander W. and Thakuria, Joseph and Wu, Xiaodi and Kim, Ryan W. and Huntley, Jim J. and Luo, Shujun and Schroth, Gary P. and Wu, Thomas D. and Kim, HyeRan and Yang, Kap-Seok and Park, Woong-Yang and Kim, Hyungtae and Church, George M. and Lee, Charles and Kingsmore, Stephen F. and Seo, Jeong-Sun}, citeulike-article-id = {5103484}, citeulike-linkout-0 = {http://dx.doi.org/10.1038/nature08211}, citeulike-linkout-1 = {http://dx.doi.org/10.1038/nature08211}, citeulike-linkout-2 = {http://view.ncbi.nlm.nih.gov/pubmed/19587683}, citeulike-linkout-3 = {http://www.hubmed.org/display.cgi?uids=19587683}, day = {08}, doi = {10.1038/nature08211}, issn = {0028-0836}, journal = {Nature}, keywords = {fourstar, sequencing}, month = {July}, number = {7258}, pages = {1011--1015}, posted-at = {2009-08-19 20:09:57}, priority = {2}, publisher = {Nature Publishing Group}, title = {A highly annotated whole-genome sequence of a Korean individual}, url = {http://dx.doi.org/10.1038/nature08211}, volume = {advance online publication}, year = {2009} }

TY - JOUR ID - citeulike:5103484 L3 - citeulike-article-id:5103484 N2 - 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 China1, 2, 3, 4. 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 (27.8 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 clades5, 6, 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. IS - 7258 JF - Nature SN - 0028-0836 EP - 1015 TI - A highly annotated whole-genome sequence of a Korean individual PB - Nature Publishing Group VL - advance online publication SP - 1011 KW - fourstar KW - sequencing AU - Kim, Jong-Il AU - Ju, Young AU - Park, Hansoo AU - Kim, Sheehyun AU - Lee, Seonwook AU - Yi, Jae-Hyuk AU - Mudge, Joann AU - Miller, Neil AU - Hong, Dongwan AU - Bell, Callum AU - Kim, Hye-Sun AU - Chung, In-Soon AU - Lee, Woo-Chung AU - Lee, Ji-Sun AU - Seo, Seung-Hyun AU - Yun, Ji-Young AU - Woo, Hyun AU - Lee, Heewook AU - Suh, Dongwhan AU - Lee, Seungbok AU - Kim, Hyun-Jin AU - Yavartanoo, Maryam AU - Kwak, Minhye AU - Zheng, Ying AU - Lee, Mi AU - Park, Hyunjun AU - Kim, Jeong AU - Gokcumen, Omer AU - Mills, Ryan AU - Zaranek, Alexander AU - Thakuria, Joseph AU - Wu, Xiaodi AU - Kim, Ryan AU - Huntley, Jim AU - Luo, Shujun AU - Schroth, Gary AU - Wu, Thomas AU - Kim, HyeRan AU - Yang, Kap-Seok AU - Park, Woong-Yang AU - Kim, Hyungtae AU - Church, George AU - Lee, Charles AU - Kingsmore, Stephen AU - Seo, Jeong-Sun PY - 2009/07/08/ UR - http://dx.doi.org/10.1038/nature08211 ER -