title: Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals.
abstract: Massively parallel sequencing technologies have identified a broad spectrum of human genome diversity. Here we deep sequenced and correlated 18 genomes and 17 transcriptomes of unrelated Korean individuals. This has allowed us to construct a genome-wide map of common and rare variants and also identify variants formed during DNA-RNA transcription. We identified 9.56 million genomic variants, 23.2% of which appear to be previously unidentified. From transcriptome sequencing, we discovered 4,414 transcripts not previously annotated. Finally, we revealed 1,809 sites of transcriptional base modification, where the transcriptional landscape is different from the corresponding genomic sequences, and 580 sites of allele-specific expression. Our findings suggest that a considerable number of unexplored genomic variants still remain to be identified in the human genome, and that the integrated analysis of genome and transcriptome sequencing is powerful for understanding the diversity and functional aspects of human genomic variants.
authors: Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University, Seoul, Korea.
authors: Young Seok
authors: YS
authors: Ju
authors: Jong-Il
authors: JI
authors: Kim
authors: Sheehyun
authors: S
authors: Kim
authors: Dongwan
authors: D
authors: Hong
authors: Hansoo
authors: H
authors: Park
authors: Jong-Yeon
authors: JY
authors: Shin
authors: Seungbok
authors: S
authors: Lee
authors: Won-Chul
authors: WC
authors: Lee
authors: Sujung
authors: S
authors: Kim
authors: Saet-Byeol
authors: SB
authors: Yu
authors: Sung-Soo
authors: SS
authors: Park
authors: Seung-Hyun
authors: SH
authors: Seo
authors: Ji-Young
authors: JY
authors: Yun
authors: Hyun-Jin
authors: HJ
authors: Kim
authors: Dong-Sung
authors: DS
authors: Lee
authors: Maryam
authors: M
authors: Yavartanoo
authors: Hyunseok Peter
authors: HP
authors: Kang
authors: Omer
authors: O
authors: Gokcumen
authors: Diddahally R
authors: DR
authors: Govindaraju
authors: Jung Hee
authors: JH
authors: Jung
authors: Hyonyong
authors: H
authors: Chong
authors: Kap-Seok
authors: KS
authors: Yang
authors: Hyungtae
authors: H
authors: Kim
authors: Charles
authors: C
authors: Lee
authors: Jeong-Sun
authors: JS
authors: Seo
mesh_terms: D005260:Female; D020869:Gene Expression Profiling; D015894:Genome, Human; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007723:Korea; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017422:Sequence Analysis, DNA; D017423:Sequence Analysis, RNA