title: A highly annotated whole-genome sequence of a Korean individual.
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.
authors: Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul 110-799, Korea.
authors: Jong-Il
authors: JI
authors: Kim
authors: Young Seok
authors: YS
authors: Ju
authors: Hansoo
authors: H
authors: Park
authors: Sheehyun
authors: S
authors: Kim
authors: Seonwook
authors: S
authors: Lee
authors: Jae-Hyuk
authors: JH
authors: Yi
authors: Joann
authors: J
authors: Mudge
authors: Neil A
authors: NA
authors: Miller
authors: Dongwan
authors: D
authors: Hong
authors: Callum J
authors: CJ
authors: Bell
authors: Hye-Sun
authors: HS
authors: Kim
authors: In-Soon
authors: IS
authors: Chung
authors: Woo-Chung
authors: WC
authors: Lee
authors: Ji-Sun
authors: JS
authors: Lee
authors: Seung-Hyun
authors: SH
authors: Seo
authors: Ji-Young
authors: JY
authors: Yun
authors: Hyun Nyun
authors: HN
authors: Woo
authors: Heewook
authors: H
authors: Lee
authors: Dongwhan
authors: D
authors: Suh
authors: Seungbok
authors: S
authors: Lee
authors: Hyun-Jin
authors: HJ
authors: Kim
authors: Maryam
authors: M
authors: Yavartanoo
authors: Minhye
authors: M
authors: Kwak
authors: Ying
authors: Y
authors: Zheng
authors: Mi Kyeong
authors: MK
authors: Lee
authors: Hyunjun
authors: H
authors: Park
authors: Jeong Yeon
authors: JY
authors: Kim
authors: Omer
authors: O
authors: Gokcumen
authors: Ryan E
authors: RE
authors: Mills
authors: Alexander Wait
authors: AW
authors: Zaranek
authors: Joseph
authors: J
authors: Thakuria
authors: Xiaodi
authors: X
authors: Wu
authors: Ryan W
authors: RW
authors: Kim
authors: Jim J
authors: JJ
authors: Huntley
authors: Shujun
authors: S
authors: Luo
authors: Gary P
authors: GP
authors: Schroth
authors: Thomas D
authors: TD
authors: Wu
authors: HyeRan
authors: H
authors: Kim
authors: Kap-Seok
authors: KS
authors: Yang
authors: Woong-Yang
authors: WY
authors: Park
authors: Hyungtae
authors: H
authors: Kim
authors: George M
authors: GM
authors: Church
authors: Charles
authors: C
authors: Lee
authors: Stephen F
authors: SF
authors: Kingsmore
authors: Jeong-Sun
authors: JS
authors: Seo
mesh_terms: D044466:Asian People / Q000235:genetics*; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D055028:Comparative Genomic Hybridization; D019295:Computational Biology; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D054643:INDEL Mutation / Q000235:genetics; D007723:Korea; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017422:Sequence Analysis, DNA