作者
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 Jung, Hyonyong Chong, Kap-Seok Yang, Hyungtae Kim, Charles Lee, Jeong-Sun Seo
发表日期
2011/8
期刊
Nature genetics
卷号
43
期号
8
页码范围
745-752
出版商
Nature Publishing Group US
简介
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 …
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