Title Page
Contents
ABSTRACT 8
I. INTRODUCTION 11
II. MATERIALS AND METHODS 14
1. Patients and samples 14
2. Description of processed file format 14
3. Analysis of germline variant 15
4. Summarize and visualize somatic variant calling results 16
5. Analysis of transcriptome data 16
6. Statistics 17
III. RESULTS 18
1. Establish a pipeline to identify NAFLD-associated somatic variants using whole genome/exome sequencing data. 18
2. Validation of genetic factors for NAFLD. 24
3. Investigation of somatic variant sites through comprehensive analysis of WGS and WES. 28
4. Frequency of NAFLD-associated somatic variations in 120 NAFLD patients. 32
5. Examination of exclusive variations in 504 genes with NAFLD-associated somatic variations. 37
IV. DISCUSSION 42
V. REFERENCES 45
ABSTRACT IN KOREAN 51
Figure 1. Pipeline for calling somatic variations through WGS and WES analysis. 23
Figure 2. Verification of variations in PNPLA3, TM6SF2, and AGXT2 in... 27
Figure 3. Summary of somatic variant sites in NAFLD cohort. 31
Figure 4. Investigation of genes with high variation frequency. 36
Figure 5. Identification of exclusive or non-exclusive variants related... 41