Applications of genetic-epigenetic tissue mapping for plasma DNA in prenatal testing, transplantation and oncology

We developed genetic-epigenetic tissue mapping (GETMap) to determine the composition of plasma DNA carrying genetic variants not present in constitutional genome through comparing their methylation profiles with relevant tissues. validated this approach by showing that, pregnant women, circulating fetal-specific alleles was entirely placenta-derived. In lung transplant recipients, we showed at 72 hr after transplantation, contributed only a median 17% donor-specific alleles, and hematopoietic cells 78%. hepatocellular cancer patients, liver identified as predominant source tumor-specific mutations. woman lymphoma, molecules mutations were accurately shown be derived from lymphocytes placenta, respectively. Analysis origin for is potentially useful noninvasive prenatal testing, transplantation monitoring, screening.