DC Field | Value | Language |
---|---|---|
dc.contributor.advisor | 최정균 | - |
dc.contributor.author | Bae, Min Gyun | - |
dc.contributor.author | 배민균 | - |
dc.date.accessioned | 2024-07-26T19:30:34Z | - |
dc.date.available | 2024-07-26T19:30:34Z | - |
dc.date.issued | 2023 | - |
dc.identifier.uri | http://library.kaist.ac.kr/search/detail/view.do?bibCtrlNo=1046631&flag=dissertation | en_US |
dc.identifier.uri | http://hdl.handle.net/10203/320859 | - |
dc.description | 학위논문(박사) - 한국과학기술원 : 바이오및뇌공학과, 2023.8,[ix, 90 p. :] | - |
dc.description.abstract | Multi-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.language | eng | - |
dc.publisher | 한국과학기술원 | - |
dc.subject | 기계학습▼a딥러닝▼a무세포 DNA▼a암 | - |
dc.subject | Machine learning▼aDeep learning▼aCell-free DNA▼aCancer | - |
dc.title | Development of enhanced cancer diagnosis model using epigenetic characteristics of cell-free DNA | - |
dc.title.alternative | Cell-free DNA의 후성유전체적 특징을 이용한 향상된 암 진단 모델개발 | - |
dc.type | Thesis(Ph.D) | - |
dc.identifier.CNRN | 325007 | - |
dc.description.department | 한국과학기술원 :바이오및뇌공학과, | - |
dc.contributor.alternativeauthor | Choi, Jung Kyoon | - |
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