Department of Pathology, Dunedin School of Medicine, University of Otago, 270 Great King Street, Dunedin 9054, New Zealand.
Maurice Wilkins Centre for Molecular Biodiscovery, Level 2, 3A Symonds Street, Auckland 1010, New Zealand.
Sci Data. 2016 Mar 15;3:160019. doi: 10.1038/sdata.2016.19.
Methylation of DNA molecules is a key mechanism associated with human disease, altered gene expression and phenotype. Using reduced representation bisulphite sequencing (RRBS) technology we have analysed DNA methylation patterns in healthy individuals and identified genes showing significant inter-individual variation. Further, using whole genome transcriptome analysis (RNA-Seq) on the same individuals we showed a local and specific relationship of exon inclusion and variable DNA methylation pattern. For RRBS, 363 million, 100-bp reads were generated from 13 samples using Illumina GAII and HiSeq2000 platforms. Here we also present additional RRBS data for a female pair of monozygotic twins that was not described in our original publication. Further, We performed RNA-Seq on four of these individuals, generating 174 million, 51-bp high quality reads on an Illumina HiSeq2000 platform. The current data set could be exploited as a comprehensive resource for understanding the nature and mechanism of variable phenotypic traits and altered disease susceptibility due to variable DNA methylation and gene expression patterns in healthy individuals.
DNA 分子的甲基化是与人类疾病、基因表达改变和表型相关的关键机制。我们使用简化代表性双硫代碱基测序 (RRBS) 技术分析了健康个体的 DNA 甲基化模式,并鉴定出了表现出显著个体间差异的基因。此外,我们对相同个体进行了全基因组转录组分析 (RNA-Seq),显示了外显子包含和可变 DNA 甲基化模式之间的局部和特定关系。对于 RRBS,我们使用 Illumina GAII 和 HiSeq2000 平台从 13 个样本中生成了 3.63 亿个 100-bp 读取。在这里,我们还提供了一对女性同卵双胞胎的额外 RRBS 数据,这些数据在我们的原始出版物中没有描述。此外,我们对其中的四个人进行了 RNA-Seq 分析,在 Illumina HiSeq2000 平台上生成了 1.74 亿个 51-bp 的高质量读取。当前数据集可被用作一个综合资源,用于理解由于健康个体中可变的 DNA 甲基化和基因表达模式导致的可变表型特征和改变的疾病易感性的性质和机制。