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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 Genom...
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  
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■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.

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