Jul 5, 2011

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

Nature Genetics
Young Seok JuJeong-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. 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.

  • References49
  • Citations77

Citations

Mentioned in this Paper

Genome
Sequence Determinations, RNA
Transcription, Genetic
Genomics
Sequencing
Massively-Parallel Sequencing
Sequence Determinations, DNA
High-Throughput Nucleotide Sequencing
Alleles
Transcriptome

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