Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals

Young Seok Ju, Jong Il Kim, Sheehyun Kim, Dongwan Hong, Hansoo Park, Jong Yeon Shin, Seungbok Lee, Won Chul Lee, Sujung Kim, Saet Byeol Yu, Sung Soo Park, Seung Hyun Seo, Ji Young Yun, Hyun Jin Kim, Dong Sung Lee, Maryam Yavartanoo, Hyunseok Peter Kang, Omer Gokcumen, Diddahally R. Govindaraju, Jung Hee JungHyonyong Chong, Kap Seok Yang, Hyungtae Kim, Charles Lee, Jeong Sun Seo

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102 Scopus citations

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.

Original languageEnglish
Pages (from-to)745-752
Number of pages8
JournalNature Genetics
Volume43
Issue number8
DOIs
StatePublished - 1 Aug 2011

Cite this

Ju, Y. S., Kim, J. I., Kim, S., Hong, D., Park, H., Shin, J. Y., Lee, S., Lee, W. C., Kim, S., Yu, S. B., Park, S. S., Seo, S. H., Yun, J. Y., Kim, H. J., Lee, D. S., Yavartanoo, M., Kang, H. P., Gokcumen, O., Govindaraju, D. R., ... Seo, J. S. (2011). Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals. Nature Genetics, 43(8), 745-752. https://doi.org/10.1038/ng.872