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- Title
Applications of genetic-epigenetic tissue mapping for plasma DNA in prenatal testing, transplantation and oncology.
- Authors
Wanxia Gai; Ze Zhou; Agbor-Enoh, Sean; Xiaodan Fan; Sheng Lian; Peiyong Jiang; Suk Hang Cheng; Wong, John; Chan, Stephen L.; Moon Kyoo Jang; Yanqin Yang; Liang, Raymond H. S.; Wai Kong Chan; Ma, Edmond S. K.; Leung, Tak Y.; Chiu, Rossa W. K.; Valantine, Hannah; Allen Chan, K. C.; Dennis Lo, Y. M.
- Abstract
We developed genetic-epigenetic tissue mapping (GETMap) to determine the tissue composition of plasma DNA carrying genetic variants not present in the constitutional genome through comparing their methylation profiles with relevant tissues. We validated this approach by showing that, in pregnant women, circulating DNA carrying fetal-specific alleles was entirely placenta-derived. In lung transplant recipients, we showed that, at 72 hr after transplantation, the lung contributed only a median of 17% to the plasma DNA carrying donor-specific alleles, and hematopoietic cells contributed a median of 78%. In hepatocellular cancer patients, the liver was identified as the predominant source of plasma DNA carrying tumor-specific mutations. In a pregnant woman with lymphoma, plasma DNA molecules carrying cancer mutations and fetalspecific alleles were accurately shown to be derived from the lymphocytes and placenta, respectively. Analysis of tissue origin for plasma DNA carrying genetic variants is potentially useful for noninvasive prenatal testing, transplantation monitoring, and cancer screening.
- Subjects
CELL-free DNA; PRENATAL diagnosis; GENETIC variation; DNA; LIVER cancer; CIRCULATING tumor DNA
- Publication
eLife, 2021, p1
- ISSN
2050-084X
- Publication type
Article
- DOI
10.7554/eLife.64356