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Machine Learning Insights into the 3D Genome: Diversity and Gene Regulation in Human Populations
Machine Learning Insights into the 3D Genome: Diversity and Gene Regulation in Human Popul...
Machine Learning Insights into the 3D Genome: Diversity and Gene Regulation in Human Populations

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자료유형  
 학위논문 서양
최종처리일시  
20250211152723
ISBN  
9798384077695
DDC  
574
저자명  
Gilbertson, Erin Nicole.
서명/저자  
Machine Learning Insights into the 3D Genome: Diversity and Gene Regulation in Human Populations
발행사항  
[Sl] : University of California, San Francisco, 2024
발행사항  
Ann Arbor : ProQuest Dissertations & Theses, 2024
형태사항  
180 p
주기사항  
Source: Dissertations Abstracts International, Volume: 86-03, Section: B.
주기사항  
Advisor: Capra, John A.
학위논문주기  
Thesis (Ph.D.)--University of California, San Francisco, 2024.
초록/해제  
요약The three-dimensional (3D) organization of the human genome plays a crucial role in gene regulation, influencing interactions between genes and regulatory elements. Despite significant progress in genomics, the diversity of 3D chromatin contact patterns across human populations remains underexplored. This dissertation uses machine learning to predict 3D chromatin contact maps from genome sequences, revealing new insights into genome architecture among diverse populations. In Chapter 1, I provide a literature review and overview of human population and regulatory genetics in relationship to the 3D genome with a focus on machine learning techniques for studying each. In Chapter 2 I present the results of my study using a machine learning model to predict 3D genome for thousands of individuals, uncovering substantial 3D genomic diversity, particularly within African populations. It also identifies regions where 3D divergence occurs independently of sequence variation, especially in areas under low functional constraint. These findings underscore the importance of considering 3D genome organization in understanding gene regulation and its implications for health and disease.
일반주제명  
Bioinformatics
일반주제명  
Genetics
일반주제명  
Evolution & development
키워드  
3D genome
키워드  
Evolutionary genomics
키워드  
Machine learning
키워드  
Population genetics
키워드  
Regulatory genomics
기타저자  
University of California, San Francisco Biological and Medical Informatics
기본자료저록  
Dissertations Abstracts International. 86-03B.
전자적 위치 및 접속  
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MARC

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■040    ▼aMiAaPQ▼cMiAaPQ
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■1001  ▼aGilbertson,  Erin  Nicole.▼0(orcid)0000-0002-2426-9966
■24510▼aMachine  Learning  Insights  into  the  3D  Genome:  Diversity  and  Gene  Regulation  in  Human  Populations
■260    ▼a[Sl]▼bUniversity  of  California,  San  Francisco▼c2024
■260  1▼aAnn  Arbor▼bProQuest  Dissertations  &  Theses▼c2024
■300    ▼a180  p
■500    ▼aSource:  Dissertations  Abstracts  International,  Volume:  86-03,  Section:  B.
■500    ▼aAdvisor:  Capra,  John  A.
■5021  ▼aThesis  (Ph.D.)--University  of  California,  San  Francisco,  2024.
■520    ▼aThe  three-dimensional  (3D)  organization  of  the  human  genome  plays  a  crucial  role  in  gene  regulation,  influencing  interactions  between  genes  and  regulatory  elements.  Despite  significant  progress  in  genomics,  the  diversity  of  3D  chromatin  contact  patterns  across  human  populations  remains  underexplored.  This  dissertation  uses  machine  learning  to  predict  3D  chromatin  contact  maps  from  genome  sequences,  revealing  new  insights  into  genome  architecture  among  diverse  populations.  In  Chapter  1,  I  provide  a  literature  review  and  overview  of  human  population  and  regulatory  genetics  in  relationship  to  the  3D  genome  with  a  focus  on  machine  learning  techniques  for  studying  each.  In  Chapter  2  I  present  the  results  of  my  study  using  a  machine  learning  model  to  predict  3D  genome  for  thousands  of  individuals,  uncovering  substantial  3D  genomic  diversity,  particularly  within  African  populations.  It  also  identifies  regions  where  3D  divergence  occurs  independently  of  sequence  variation,  especially  in  areas  under  low  functional  constraint.  These  findings  underscore  the  importance  of  considering  3D  genome  organization  in  understanding  gene  regulation  and  its  implications  for  health  and  disease.
■590    ▼aSchool  code:  0034.
■650  4▼aBioinformatics
■650  4▼aGenetics
■650  4▼aEvolution  &  development
■653    ▼a3D  genome
■653    ▼aEvolutionary  genomics
■653    ▼aMachine  learning
■653    ▼aPopulation  genetics
■653    ▼aRegulatory  genomics
■690    ▼a0715
■690    ▼a0369
■690    ▼a0412
■690    ▼a0800
■71020▼aUniversity  of  California,  San  Francisco▼bBiological  and  Medical  Informatics.
■7730  ▼tDissertations  Abstracts  International▼g86-03B.
■790    ▼a0034
■791    ▼aPh.D.
■792    ▼a2024
■793    ▼aEnglish
■85640▼uhttp://www.riss.kr/pdu/ddodLink.do?id=T17163549▼nKERIS▼z이  자료의  원문은  한국교육학술정보원에서  제공합니다.

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