Publication Date:
2009-07-10
Description:
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.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2860965/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉 〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2860965/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kim, Jong-Il -- Ju, Young Seok -- Park, Hansoo -- Kim, Sheehyun -- Lee, Seonwook -- Yi, Jae-Hyuk -- Mudge, Joann -- Miller, Neil A -- Hong, Dongwan -- Bell, Callum J -- Kim, Hye-Sun -- Chung, In-Soon -- Lee, Woo-Chung -- Lee, Ji-Sun -- Seo, Seung-Hyun -- Yun, Ji-Young -- Woo, Hyun Nyun -- Lee, Heewook -- Suh, Dongwhan -- Lee, Seungbok -- Kim, Hyun-Jin -- Yavartanoo, Maryam -- Kwak, Minhye -- Zheng, Ying -- Lee, Mi Kyeong -- Park, Hyunjun -- Kim, Jeong Yeon -- Gokcumen, Omer -- Mills, Ryan E -- Zaranek, Alexander Wait -- Thakuria, Joseph -- Wu, Xiaodi -- Kim, Ryan W -- Huntley, Jim J -- Luo, Shujun -- Schroth, Gary P -- Wu, Thomas D -- Kim, HyeRan -- Yang, Kap-Seok -- Park, Woong-Yang -- Kim, Hyungtae -- Church, George M -- Lee, Charles -- Kingsmore, Stephen F -- Seo, Jeong-Sun -- HG004221/HG/NHGRI NIH HHS/ -- P20 RR016480/RR/NCRR NIH HHS/ -- P20 RR016480-08/RR/NCRR NIH HHS/ -- RR016480/RR/NCRR NIH HHS/ -- U01 AI066569/AI/NIAID NIH HHS/ -- U01 AI066569-04/AI/NIAID NIH HHS/ -- U19 HD077693/HD/NICHD NIH HHS/ -- England -- Nature. 2009 Aug 20;460(7258):1011-5. doi: 10.1038/nature08211. Epub 2009 Jul 8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul 110-799, Korea.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19587683" target="_blank"〉PubMed〈/a〉
Keywords:
Asian Continental Ancestry Group/*genetics
;
Chromosomes, Artificial, Bacterial/genetics
;
Comparative Genomic Hybridization
;
Computational Biology
;
Genome, Human/*genetics
;
Humans
;
INDEL Mutation/genetics
;
Korea
;
Oligonucleotide Array Sequence Analysis
;
Polymorphism, Single Nucleotide/genetics
;
Sequence Analysis, DNA
Print ISSN:
0028-0836
Electronic ISSN:
1476-4687
Topics:
Biology
,
Chemistry and Pharmacology
,
Medicine
,
Natural Sciences in General
,
Physics
