Kim, Jong-IlJu, Young SeokPark, HansooKim, SheehyunLee, SeonwookYi, Jae-HyukMudge, JoannMiller, Neil A.Hong, DongwanBell, Callum J.Kim, Hye-SunChung, In-SoonLee, Woo-ChungLee, Ji-SunSeo, Seung-HyunYun, Ji-YoungWoo, Hyun NyunLee, HeewookSuh, DongwhanLee, SeungbokKim, Hyun-JinYavartanoo, MaryamKwak, MinhyeZheng, YingLee, Mi KyeongPark, HyunjunKim, Jeong YeonGokcumen, OmerMills, Ryan E.Zaranek, Alexander WaitThakuria, JosephWu, XiaodiKim, Ryan W.Huntley, Jim J.Luo, ShujunSchroth, Gary P.Wu, Thomas D.Kim, HyeRanYang, Kap-SeokPark, Woong-YangKim, HyungtaeChurch, GeorgeLee, CharlesKingsmore, Stephen F.Seo, Jeong-Sun2021-09-302009-07-08Kim, Jong-Il, Young Seok Ju, Hansoo Park, Sheehyun Kim, Seonwook Lee, Jae-Hyuk Yi, Joann Mudge et al. "A Highly Annotated Whole-Genome Sequence of a Korean Individual." Nature 460, no. 7258 (2009): 1011-1015. DOI: 10.1038/nature082110028-08361476-4687https://nrs.harvard.edu/URN-3:HUL.INSTREPOS:37369627Recent 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 north-west European origin, and a person from China1–4. 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.en-USJournal Article2017-08-0820092021-09-3010.1038/nature08211