Title Page
ABSTRACT
Contents
1. INTRODUCTION 11
2. ANALYSIS METHODS 13
2.1. Raw data processing 13
2.2. Methylation extraction and CpG depth filtering 13
2.3. Detection of differentially methylated regions 14
2.4. Motif enrichment test 15
2.5. Prediction of HAND1 binding sites 15
2.6. Filtration of differentially expressed genes through RNA-sequencing data 16
3. RESULTS 17
3.1. Identification of DMRs between growth discordant co-twins 17
3.2. Motif enrichment test in DMRs 18
3.3. Identification of DEGs and functional ontology results 19
3.4. An overlap between DMRs, DEGs, and predicted HAND1 binding sites 20
3.5. IGF2/H19 gene cluster genomic imprinting 21
4. DISCUSSION 38
5. REFERENCES 41
국문 초록 45
Table 1. Sample information table 24
Table 2. Alignment report table 25
Table 3. Cytosine methylation report table 26
Table 4. Overview of CpG depth 27
Table 5. A list of the detected DMRs 30
Figure 1. Heatmaps of detected DMRs 28
Figure 2. An example of the detected DMRs 29
Figure 3. Motif enrichment test in DMRs A. Motif enrichment test in 23 DMRs 32
Figure 4. DEG analysis results A. Heatmap of DEGs 34
Figure 5. IGF2/H19 gene cluster genomic imprinting 35
Figure 6. IGF2/H19 relative expression in samples and TPM fold changes within twins... 37