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Specialized Hardware-Software Systems for High-Performance Evolutionary and Clinical Genomics
Specialized Hardware-Software Systems for High-Performance Evolutionary and Clinical Genomics
상세정보
- 자료유형
- 학위논문 서양
- 최종처리일시
- 20250211151943
- ISBN
- 9798384204008
- DDC
- 621.3
- 저자명
- Goenka, Sneha D.
- 서명/저자
- Specialized Hardware-Software Systems for High-Performance Evolutionary and Clinical Genomics
- 발행사항
- [Sl] : Stanford University, 2024
- 발행사항
- Ann Arbor : ProQuest Dissertations & Theses, 2024
- 형태사항
- 225 p
- 주기사항
- Source: Dissertations Abstracts International, Volume: 86-03, Section: B.
- 주기사항
- Advisor: Horowitz, Mark.
- 학위논문주기
- Thesis (Ph.D.)--Stanford University, 2024.
- 초록/해제
- 요약The landscape of computing has undergone a significant transformation with the death of Dennard scaling and the slowing of Moore's Law: applications now drive innovations in computer systems architecture. At the same time, the advent of high throughput, low cost sequencing technology has revolutionized genomics. The massive volume of data generated in genomics has revealed significant computational challenges in performing large-scale, sensitive biological inference, primarily due to the limitations of software designed for traditional multicore systems. Similarly, the existing downstream processing of genomic data from acutely ill patients contributes to delayed diagnostics, directly impacting the speed at which critical medical decisions can be made. To address this challenge, my research employs a hardware-software-algorithm co-design approach to significantly improve computational performance (scale, sensitivity, speed) in key areas of comparative and clinical genomics.This dissertation presents systems that accelerate pipelines in both these domains of genomics. First, it describes SegAlign (GPU) and Darwin-WGA (FPGA/ASIC) cross-species whole genome alignment where co-design has yielded orders of magnitude increase in speed. Additionally, there are gains in accuracy while modifying the algorithm to improve the underlying hardware implementation. Next, it outlines the ultra-rapid nanopore whole genome sequencing pipeline that can deliver a genetic diagnosis in under 8 hours, making it the fastest pipeline to date. The scalable, cloud-based distributed infrastructure overcomes system bottlenecks to enable near real-time computation and improved variant identification. This pipeline has been deployed in critical care units in Stanford hospitals and applied to a cohort of multiple patients. Overall, these advancements not only redefine computational paradigms in genomics but also set a new standard for the integration of technological innovation in clinical settings, promising significant improvements in patient care and disease understanding.
- 일반주제명
- Computer engineering
- 일반주제명
- Software
- 일반주제명
- Genomes
- 일반주제명
- Meals
- 일반주제명
- Genomics
- 일반주제명
- Genetics
- 기타저자
- Stanford University.
- 기본자료저록
- Dissertations Abstracts International. 86-03B.
- 전자적 위치 및 접속
- 로그인 후 원문을 볼 수 있습니다.
MARC
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■00520250211151943
■006m o d
■007cr#unu||||||||
■020 ▼a9798384204008
■035 ▼a(MiAaPQ)AAI31324657
■035 ▼a(MiAaPQ)Stanfordpx421qh7904
■040 ▼aMiAaPQ▼cMiAaPQ
■0820 ▼a621.3
■1001 ▼aGoenka, Sneha D.
■24510▼aSpecialized Hardware-Software Systems for High-Performance Evolutionary and Clinical Genomics
■260 ▼a[Sl]▼bStanford University▼c2024
■260 1▼aAnn Arbor▼bProQuest Dissertations & Theses▼c2024
■300 ▼a225 p
■500 ▼aSource: Dissertations Abstracts International, Volume: 86-03, Section: B.
■500 ▼aAdvisor: Horowitz, Mark.
■5021 ▼aThesis (Ph.D.)--Stanford University, 2024.
■520 ▼aThe landscape of computing has undergone a significant transformation with the death of Dennard scaling and the slowing of Moore's Law: applications now drive innovations in computer systems architecture. At the same time, the advent of high throughput, low cost sequencing technology has revolutionized genomics. The massive volume of data generated in genomics has revealed significant computational challenges in performing large-scale, sensitive biological inference, primarily due to the limitations of software designed for traditional multicore systems. Similarly, the existing downstream processing of genomic data from acutely ill patients contributes to delayed diagnostics, directly impacting the speed at which critical medical decisions can be made. To address this challenge, my research employs a hardware-software-algorithm co-design approach to significantly improve computational performance (scale, sensitivity, speed) in key areas of comparative and clinical genomics.This dissertation presents systems that accelerate pipelines in both these domains of genomics. First, it describes SegAlign (GPU) and Darwin-WGA (FPGA/ASIC) cross-species whole genome alignment where co-design has yielded orders of magnitude increase in speed. Additionally, there are gains in accuracy while modifying the algorithm to improve the underlying hardware implementation. Next, it outlines the ultra-rapid nanopore whole genome sequencing pipeline that can deliver a genetic diagnosis in under 8 hours, making it the fastest pipeline to date. The scalable, cloud-based distributed infrastructure overcomes system bottlenecks to enable near real-time computation and improved variant identification. This pipeline has been deployed in critical care units in Stanford hospitals and applied to a cohort of multiple patients. Overall, these advancements not only redefine computational paradigms in genomics but also set a new standard for the integration of technological innovation in clinical settings, promising significant improvements in patient care and disease understanding.
■590 ▼aSchool code: 0212.
■650 4▼aComputer engineering
■650 4▼aSoftware
■650 4▼aGenomes
■650 4▼aMeals
■650 4▼aGenomics
■650 4▼aGenetics
■690 ▼a0464
■690 ▼a0369
■71020▼aStanford University.
■7730 ▼tDissertations Abstracts International▼g86-03B.
■790 ▼a0212
■791 ▼aPh.D.
■792 ▼a2024
■793 ▼aEnglish
■85640▼uhttp://www.riss.kr/pdu/ddodLink.do?id=T17162195▼nKERIS▼z이 자료의 원문은 한국교육학술정보원에서 제공합니다.


