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Genes, Omics, and Justice: Bridging the Gaps in Computational Precision Medicine
Genes, Omics, and Justice: Bridging the Gaps in Computational Precision Medicine
상세정보
- 자료유형
- 학위논문 서양
- 최종처리일시
- 20260202104829
- ISBN
- 9798293855742
- DDC
- 575
- 서명/저자
- Genes, Omics, and Justice: Bridging the Gaps in Computational Precision Medicine
- 발행사항
- [Sl] : University of California, San Francisco, 2025
- 발행사항
- Ann Arbor : ProQuest Dissertations & Theses, 2025
- 형태사항
- 167 p
- 주기사항
- Source: Dissertations Abstracts International, Volume: 87-03, Section: B.
- 주기사항
- Advisor: Hernandez, Ryan D.;Torgerson, Dara G.
- 학위논문주기
- Thesis (Ph.D.)--University of California, San Francisco, 2025.
- 초록/해제
- 요약Precision medicine seeks to tailor healthcare based on individual genetic and molecular profiles. However, most existing tools and datasets were developed using Eurocentric cohorts, limiting their accuracy and equity across diverse populations. This dissertation addresses disparities in precision medicine through the development and application of computational approaches rooted in evolutionary theory, population genetics, and multi-omic technologies. I first introduce py_ped_sim, a simulation tool to evaluate the performance of kinship inference methods across varied ancestry backgrounds. I then apply untargeted metabolomics to examine postnatal metabolic changes linked to respiratory disease in extremely premature infants. In a large-scale genome study using data from the TOPMed consortium, I assess ultra-rare variant patterns and show how genetic ancestry shapes trait architecture and variant discovery. Finally, I reflect on my efforts to foster equity in science through mentorship, community engagement, and systemic change. Across these chapters, I use diverse data types, including simulated pedigrees, whole-genome sequences, and metabolomic profiles, to highlight the scientific and ethical importance of centering equity in research design. These findings emphasize that meaningful progress in precision medicine depends not only on technical innovation but also on addressing the structural and social factors that contribute to disparities that are seen in biomedical studies.
- 일반주제명
- Genetics
- 일반주제명
- Epidemiology
- 일반주제명
- Bioinformatics
- 일반주제명
- Biomedical engineering
- 키워드
- Medical genetics
- 키워드
- Multi-omics
- 기타저자
- University of California, San Francisco Biological and Medical Informatics
- 기본자료저록
- Dissertations Abstracts International. 87-03B.
- 전자적 위치 및 접속
- 로그인 후 원문을 볼 수 있습니다.
MARC
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■020 ▼a9798293855742
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■040 ▼aMiAaPQ▼cMiAaPQ
■0820 ▼a575
■1001 ▼aGuardado, Miguel.▼0(orcid)0000-0002-1748-3956
■24510▼aGenes, Omics, and Justice: Bridging the Gaps in Computational Precision Medicine
■260 ▼a[Sl]▼bUniversity of California, San Francisco▼c2025
■260 1▼aAnn Arbor▼bProQuest Dissertations & Theses▼c2025
■300 ▼a167 p
■500 ▼aSource: Dissertations Abstracts International, Volume: 87-03, Section: B.
■500 ▼aAdvisor: Hernandez, Ryan D.;Torgerson, Dara G.
■5021 ▼aThesis (Ph.D.)--University of California, San Francisco, 2025.
■520 ▼aPrecision medicine seeks to tailor healthcare based on individual genetic and molecular profiles. However, most existing tools and datasets were developed using Eurocentric cohorts, limiting their accuracy and equity across diverse populations. This dissertation addresses disparities in precision medicine through the development and application of computational approaches rooted in evolutionary theory, population genetics, and multi-omic technologies. I first introduce py_ped_sim, a simulation tool to evaluate the performance of kinship inference methods across varied ancestry backgrounds. I then apply untargeted metabolomics to examine postnatal metabolic changes linked to respiratory disease in extremely premature infants. In a large-scale genome study using data from the TOPMed consortium, I assess ultra-rare variant patterns and show how genetic ancestry shapes trait architecture and variant discovery. Finally, I reflect on my efforts to foster equity in science through mentorship, community engagement, and systemic change. Across these chapters, I use diverse data types, including simulated pedigrees, whole-genome sequences, and metabolomic profiles, to highlight the scientific and ethical importance of centering equity in research design. These findings emphasize that meaningful progress in precision medicine depends not only on technical innovation but also on addressing the structural and social factors that contribute to disparities that are seen in biomedical studies.
■590 ▼aSchool code: 0034.
■650 4▼aGenetics
■650 4▼aEpidemiology
■650 4▼aBioinformatics
■650 4▼aBiomedical engineering
■653 ▼aCommunity organizing
■653 ▼aForensic genetics
■653 ▼aHealth disparities
■653 ▼aMedical genetics
■653 ▼aMulti-omics
■653 ▼aPopulation genetics
■690 ▼a0369
■690 ▼a0766
■690 ▼a0715
■690 ▼a0541
■71020▼aUniversity of California, San Francisco▼bBiological and Medical Informatics.
■7730 ▼tDissertations Abstracts International▼g87-03B.
■790 ▼a0034
■791 ▼aPh.D.
■792 ▼a2025
■793 ▼aEnglish
■85640▼uhttp://www.riss.kr/pdu/ddodLink.do?id=T17359065▼nKERIS▼z이 자료의 원문은 한국교육학술정보원에서 제공합니다.
