Application of Ultima Genomics whole-genome sequencing in comprehensive molecular profiling of gastric cancer
- 주제(키워드) gastric cancer , whole-genome sequencing , bioinformatics
- 주제(DDC) 570
- 발행기관 아주대학교 일반대학원
- 지도교수 Su Bin Lim
- 발행년도 2026
- 학위수여년월 2026. 8
- 학위명 박사
- 학과 및 전공 일반대학원 의생명과학과
- 실제URI http://www.dcollection.net/handler/ajou/000000036428
- 본문언어 영어
- 저작권 아주대학교 논문은 저작권에 의해 보호받습니다.
목차
I. INTRODUCTION 1
II. MATERIALS AND METHODS 4
A. Generation and preprocessing of WGS data 4
B. Integrated somatic variant calling of SNVs, indels, SVs, and CNVs 4
C. Integrated germline variant calling of SNVs, indels, SVs, and CNVs 7
D. Downstream SNV and indel interpretation analyses 7
E. Downstream SV interpretation analyses 8
F. Downstream CNV interpretation analyses 8
G. Chromosomal instability analysis 9
H. Homologous recombination deficiency analysis 10
I. Microsatellite instability analysis 11
J. COSMIC mutational signature analysis 11
K. Molecular profiling of patients 12
L. Automated clinical report generation 13
III. RESULTS 14
A. Study design and participants 14
B. Construction of an automated WGS pipeline 17
C. Optimization of the automated WGS pipeline 22
D. Baseline genomic characteristics of the cohort 26
E. Landscapes of the identified driver mutations 30
F. Key therapeutic biomarkers and treatment options 37
G. Mutational signature pattern analysis 44
H. Genomic instability analysis by HRD 50
I. Chromosomal instability analyses 54
J. Integrated molecular subtyping of CG patients 58
K. Automated clinical report generation 64
IV. DISCUSSION 66
V. CONCLUSION 72
VI. REFERENCES 73
국문요약 80
