Development of enhanced cancer diagnosis model using epigenetic characteristics of cell-free DNACell-free DNA의 후성유전체적 특징을 이용한 향상된 암 진단 모델개발

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dc.contributor.advisor최정균-
dc.contributor.authorBae, Min Gyun-
dc.contributor.author배민균-
dc.date.accessioned2024-07-26T19:30:34Z-
dc.date.available2024-07-26T19:30:34Z-
dc.date.issued2023-
dc.identifier.urihttp://library.kaist.ac.kr/search/detail/view.do?bibCtrlNo=1046631&flag=dissertationen_US
dc.identifier.urihttp://hdl.handle.net/10203/320859-
dc.description학위논문(박사) - 한국과학기술원 : 바이오및뇌공학과, 2023.8,[ix, 90 p. :]-
dc.description.abstractMulti-cancer early detection remains a key challenge in cell-free DNA (cfDNA)-based liquid biopsy. Here, we perform cfDNA whole-genome sequencing to generate two test datasets covering 2125 patient samples of 9 cancer types and 1241 normal control samples, and also a reference dataset for background variant filtering based on 20,529 low-depth healthy samples. An external cfDNA dataset consisting of 208 cancer and 214 normal control samples is used for additional evaluation. Accuracy for cancer detection and tissue-of-origin localization is achieved using our algorithm, which incorporates cancer type-specific profiles of mutation distribution and chromatin organization in tumor tissues as model references. Our integrative model detects early-stage cancers, including those of pancreatic origin, with high sensitivity that is comparable to that of late-stage detection. Model interpretation reveals the contribution of cancer type-specific genomic and epigenomic features. Our methodologies may lay the groundwork for accurate cfDNA-based cancer diagnosis, especially at early stages.-
dc.languageeng-
dc.publisher한국과학기술원-
dc.subject기계학습▼a딥러닝▼a무세포 DNA▼a암-
dc.subjectMachine learning▼aDeep learning▼aCell-free DNA▼aCancer-
dc.titleDevelopment of enhanced cancer diagnosis model using epigenetic characteristics of cell-free DNA-
dc.title.alternativeCell-free DNA의 후성유전체적 특징을 이용한 향상된 암 진단 모델개발-
dc.typeThesis(Ph.D)-
dc.identifier.CNRN325007-
dc.description.department한국과학기술원 :바이오및뇌공학과,-
dc.contributor.alternativeauthorChoi, Jung Kyoon-
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