Systematic analysis of disease-associated variations based on the interaction between genetics and epigenetics = 유전학과 후성유전학간 상호작용의 이해와 이를 통한 질병 연관변이의 시스템적 분석

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Non-coding SNP that identified via GWAS which represent genetic methods in disease research is not possible to functional study. Epigenetics known to help understanding the difference in variation of trait that are unexplainable by genetic only. In this thesis, I conducted the identification of disease-associated variants and their targets based on interplay between genetics and epigenetics. At the system level, first, I performed the deep sequencing for open chromatin across the genome of yeast strains and monozygotic twins. While individual OCRs were associated with a handful of specific genetic markers, gene expression levels were associated with many regulatory loci for yeast strains. In twin study, the difference of chromatin accessibility depends on the genotype of a nearby locus. Based on these findings, epigenetic differences can control regulatory variations through interactions with genetic factors. From previous understanding, I performed the analysis of the cause of disease not solve by GWAS using allelic analysis. This approach showed approximately two times greater sensitivity than QTL mapping. In addition, I conducted the random forest analysis for homozygote problem that cannot analyze the allelic imbalance and small sample size.
Advisors
Choi, Jung Kyoonresearcher최정균researcher
Description
한국과학기술원 :바이오및뇌공학과,
Publisher
한국과학기술원
Issue Date
2017
Identifier
325007
Language
eng
Description

학위논문(박사) - 한국과학기술원 : 바이오및뇌공학과, 2017.2,[v, 91 p. :]

Keywords

Epigenetics; Epigenome; 3D chromatin interaction; QTLs; Allelic imbalance analysis; 후성유전학; 후성유전체; 3차원 크로마틴 상호작용; 양적형질좌위; 대립유전자 불균형 분석

URI
http://hdl.handle.net/10203/241804
Link
http://library.kaist.ac.kr/search/detail/view.do?bibCtrlNo=675700&flag=dissertation
Appears in Collection
BiS-Theses_Ph.D.(박사논문)
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