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

• Published in: Nature genetics Vol. 43; no. 8; pp. 745 - 752
• Main Authors: Seo, Jeong-Sun, Ju, Young Seok, Kim, Jong-Il, Kim, Sheehyun, Hong, Dongwan, Park, Hansoo, Shin, Jong-Yeon, Lee, Seungbok, Lee, Won-Chul, Kim, Sujung, Yu, Saet-Byeol, Park, Sung-Soo, Seo, Seung-Hyun, Yun, Ji-Young, Kim, Hyun-Jin, Lee, Dong-Sung, Yavartanoo, Maryam, Kang, Hyunseok Peter, Gokcumen, Omer, Govindaraju, Diddahally R, Jung, Jung Hee, Chong, Hyonyong, Yang, Kap-Seok, Kim, Hyungtae, Lee, Charles
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.08.2011; Nature Publishing Group
• Subjects: 631/208/457/649; 631/208/514/1948; 631/208/514/1949; 631/208/514/2254; Agriculture; Animal Genetics and Genomics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Cancer Research; Deoxyribonucleic acid; Diverse techniques; DNA; Female; Fundamental and applied biological sciences. Psychology; Gene Expression Profiling; Gene Function; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genome, Human; Genomes; Genomics; High-Throughput Nucleotide Sequencing; Human Genetics; Humans; Korea; Male; Molecular and cellular biology; Molecular genetics; Nucleotide sequence; Physiological aspects; Polymorphism, Single Nucleotide - genetics; Sequence Analysis, DNA; Sequence Analysis, RNA; Single nucleotide polymorphisms; Studies; Transcription. Transcription factor. Splicing. Rna processing; Korea; South Korea; RNA; Transcription; Sequencing; DNA; Genomics
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng.872

Jeong Sun-Seo and colleagues report whole-genome sequencing of ten Korean individuals and exome sequencing on an additional eight Korean individuals. They also performed transcriptome sequencing on 17 of these individuals. The authors identified approximately 1.83 million previously unidentified SNPs. 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.