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 Jung , Hyonyong Chong , Kap-Seok Yang , Hyungtae Kim , Charles Lee & Jeong-Sun Seo
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.