| Autor: |
Su Yeon Kim, Seongmun Jeong, Wookjae Lee, Yujin Jeon, Yong-Jin Kim, Seowoo Park, Dongin Lee, Dayoung Go, Sang-Hyun Song, Sanghoo Lee, Hyun Goo Woo, Jung-Ki Yoon, Young Sik Park, Young Tae Kim, Se-Hoon Lee, Kwang Hyun Kim, Yoojoo Lim, Jin-Soo Kim, Hwang-Phill Kim, Duhee Bang, Tae-You Kim |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Experimental and Molecular Medicine, Vol 55, Iss 11, Pp 2445-2460 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2092-6413 |
| DOI: |
10.1038/s12276-023-01119-5 |
| Popis: |
Abstract Cell-free DNA (cfDNA) sequencing has demonstrated great potential for early cancer detection. However, most large-scale studies have focused only on either targeted methylation sites or whole-genome sequencing, limiting comprehensive analysis that integrates both epigenetic and genetic signatures. In this study, we present a platform that enables simultaneous analysis of whole-genome methylation, copy number, and fragmentomic patterns of cfDNA in a single assay. Using a total of 950 plasma (361 healthy and 589 cancer) and 240 tissue samples, we demonstrate that a multifeature cancer signature ensemble (CSE) classifier integrating all features outperforms single-feature classifiers. At 95.2% specificity, the cancer detection sensitivity with methylation, copy number, and fragmentomic models was 77.2%, 61.4%, and 60.5%, respectively, but sensitivity was significantly increased to 88.9% with the CSE classifier (p value |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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