ArticleNature genetics2011
Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals.
Article in Nature genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers.
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Who cites it
91 citing papers in PubMed, 138 citations in OpenAlex.
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- NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants.Genome medicine · 2019Article
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- Single-nucleotide variants in human RNA: RNA editing and beyond.Briefings in functional genomics · 2019Review
- Integrative analysis of oncogenic fusion genes and their functional impact in colorectal cancer.British journal of cancer · 2018Article
- Whole genome variant analysis in three ethnically diverse Indians.Genes & genomics · 2018Article
- KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses.Scientific reports · 2018Article
- Cancer-associated rs6983267 SNP and its accompanying long noncoding RNAGenome research · 2018Article
- Next-generation sequencing: recent applications to the analysis of colorectal cancer.Journal of translational medicine · 2017Review
- Identification of Diverse Adenosine-to-Inosine RNA Editing Subtypes in Colorectal Cancer.Cancer research and treatment · 2017Article
- ADAR1-mediated 3' UTR editing and expression control of antiapoptosis genes fine-tunes cellular apoptosis response.Cell death & disease · 2017Article
31 more citing papers are in PubMed but not listed here.
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Authors and funding
25 authors at 5 institutions in 2 countries.
Funding
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.
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