4.5 Article

Integrative genomics and transcriptomics analysis of human embryonic and induced pluripotent stem cells

期刊

BIODATA MINING
卷 7, 期 -, 页码 -

出版社

BMC
DOI: 10.1186/s13040-014-0032-2

关键词

hESC; hiPSC; Association analysis; SNP; CNV; Gene expression; Exon expression; Transcript expression

资金

  1. Academy of Finland project [134117, 134290, 129657]
  2. SyMMyS
  3. ERA-NET Erasysbio+
  4. Emil Aaltonen Foundation
  5. ESTOOLS consortium under the Sixth Research Framework Programme of the European Union
  6. Finnish Cancer Organizations
  7. Academy of Finland (AKA) [129657, 134117, 134290, 134290, 134117, 129657] Funding Source: Academy of Finland (AKA)

向作者/读者索取更多资源

Background: Human genomic variations, including single nucleotide polymorphisms (SNPs) and copy number variations (CNVs), are associated with several phenotypic traits varying from mild features to hereditary diseases. Several genome-wide studies have reported genomic variants that correlate with gene expression levels in various tissue and cell types. Results: We studied human embryonic stem cells (hESCs) and human induced pluripotent stem cells (hiPSCs) measuring the SNPs and CNVs with Affymetrix SNP 6 microarrays and expression values with Affymetrix Exon microarrays. We computed the linear relationships between SNPs and expression levels of exons, transcripts and genes, and the associations between gene CNVs and gene expression levels. Further, for a few of the resulted genes, the expression value was associated with both CNVs and SNPs. Our results revealed altogether 217 genes and 584 SNPs whose genomic alterations affect the transcriptome in the same cells. We analyzed the enriched pathways and gene ontologies within these groups of genes, and found out that the terms related to alternative splicing and development were enriched. Conclusions: Our results revealed that in the human pluripotent stem cells, the expression values of several genes, transcripts and exons were affected due to the genomic variation.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.5
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据