NON-INVASIVE DETERMINATION OF METHYLOME OF FETUS OR TUMOR FROM PLASMA

摘要

The present invention relates to systems, methods, and apparatus that can determine and utilize methylation profiles of various tissues and specimens. An example is provided in the present invention. Any methylation profile can be estimated for fetal/tumor tissue based on a comparison of plasma methylation (or other samples with cell-free DNA) and the methylation profile of the parent/patient. If the sample has a DNA mixture, any methylation profile for fetal/tumor tissue can be determined using tissue-specific alleles to identify fetal/tumor derived DNA. Any methylation profile can be used to determine copy number variation in the fetus/tumor genome. Fetal methylation markers have been identified through a variety of techniques. The methylation profile can be determined by determining the size parameter of the DNA fragment size distribution, where a reference value for the size parameter can be used to determine the methylation level. Additionally, any methylation level can be used to determine the cancer level.