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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 access
Moss, Joshua, Magenheim, Judith, Neiman, Daniel, Zemmour, Hai, Loyfer, Netanel, Korach, Amit, Samet, Yaacov, Maoz, Myriam, Druid, Henrik, Arner, Peter, Fu, Keng-Yeh, Kiss, Endre, Spalding, Kirsty L., Landesberg, Giora, Zick, Aviad, Grinshpun, Albert, Shapiro, A. M. James, Grompe, Markus, Wittenberg, Avigail Dreazan, Glaser, Benjamin, Shemer, Ruth, Kaplan, Tommy, Dor, Yuval·2018·Nature Communications

Abstract

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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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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CoChat. (2026). Citation check: Comprehensive human cell-type methylation atlas reveals origins of circulating cell-free DNA in health and disease. https://app.cochat.ai/papers/10.1038/s41467-018-07466-6
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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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