The DOI matches its Crossref record; 53 of the 53 references it cites were found in a registry or an index.
Comprehensive human cell-type methylation atlas reveals origins of circulating cell-free DNA in health and disease
Open accessAbstract
Methylation patterns of circulating cell-free DNA (cfDNA) contain rich information about recent cell death events in the body. Here, we present an approach for unbiased determination of the tissue origins of cfDNA, using a reference methylation atlas of 25 human tissues and cell types. The method is validated using in silico simulations as well as in vitro mixes of DNA from different tissue sources at known proportions. We show that plasma cfDNA of healthy donors originates from white blood cells (55%), erythrocyte progenitors (30%), vascular endothelial cells (10%) and hepatocytes (1%). Deconvolution of cfDNA from patients reveals tissue contributions that agree with clinical findings in sepsis, islet transplantation, cancer of the colon, lung, breast and prostate, and cancer of unknown primary. We propose a procedure which can be easily adapted to study the cellular contributors to cfDNA in many settings, opening a broad window into healthy and pathologic human tissue dynamics.
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Cites
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Cited by
Pascual, J., Attard, G., Bidard, F.-C., Curigliano, G., De Mattos-Arruda, L., Diehn, M., Italiano, A., Lindberg, J., Merker, J. D., Montagut, C., et al. (2022) · Annals of Oncology · doi:10.1016/j.annonc.2022.05.520 · Cited by 783
A DNA methylation atlas of normal human cell types
Loyfer, N., Magenheim, J., Peretz, A., Cann, G., Bredno, J., Klochendler, A., Fox-Fisher, I., Shabi-Porat, S., Hecht, M., Pelet, T., et al. (2023) · Nature · doi:10.1038/s41586-022-05580-6 · Cited by 656
Self-citationCirculating tumor DNA and liquid biopsy in oncology
Cescon, D. W., Bratman, S. V., Chan, S. M., & Siu, L. L. (2020) · Nature Cancer · doi:10.1038/s43018-020-0043-5 · Cited by 600
Unravelling tumour heterogeneity by single-cell profiling of circulating tumour cells
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DNA hypermethylation in disease: mechanisms and clinical relevance
Ehrlich, M. (2019) · Epigenetics · doi:10.1080/15592294.2019.1638701 · Cited by 373
Metadata
- Authors
- Moss, J., Magenheim, J., Neiman, D., Zemmour, H., Loyfer, N., Korach, A., Samet, Y., Maoz, M., Druid, H., Arner, P., Fu, K.-Y., Kiss, E., Spalding, K. L., Landesberg, G., Zick, A., Grinshpun, A., Shapiro, A. M. J., Grompe, M., Wittenberg, A. D., Glaser, B., Shemer, R., Kaplan, T., & Dor, Y.
- Venue
- Nature Communications
- Published
- 2018-11-29
- Volume
- 9
- Issue
- 1
- Pages
- 5068-5068
- ISSN
- 2041-1723 (ISSN-L)
- OpenAlex
- W2952214509
- Cited by
- 1,012
- References
- 53
- FWCI
- 17.34
- Type
- journal article
- Language
- en
- Open access
- gold
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- Moss, J., Magenheim, J., Neiman, D., Zemmour, H., Loyfer, N., Korach, A., Samet, Y., Maoz, M., Druid, H., Arner, P., Fu, K.-Y., Kiss, E., Spalding, K. L., Landesberg, G., Zick, A., Grinshpun, A., Shapiro, A. M. J., Grompe, M., Wittenberg, A. D., . . . Dor, Y. (2018). Comprehensive human cell-type methylation atlas reveals origins of circulating cell-free DNA in health and disease. Nature Communications. https://doi.org/10.1038/s41467-018-07466-6
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