Non-invasive determination of methylome of fetus or tumor from plasma
US9732390B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Mar 15, 2013 |
| Grant date | Aug 15, 2017 |
| Priority date | — |
| Expiry date | Mar 15, 2033 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/154
- WIPO fieldBiotechnology
- WIPO sectorChemistry
Abstract
Systems, methods, and apparatuses can determine and use methylation profiles of various tissues and samples. Examples are provided. A methylation profile can be deduced for fetal/tumor tissue based on a comparison of plasma methylation (or other sample with cell-free DNA) to a methylation profile of the mother/patient. A methylation profile can be determined for fetal/tumor tissue using tissue-specific alleles to identify DNA from the fetus/tumor when the sample has a mixture of DNA. A methylation profile can be used to determine copy number variations in genome of a fetus/tumor. Methylation markers for a fetus have been identified via various techniques. The methylation profile can be determined by determining a size parameter of a size distribution of DNA fragments, where reference values for the size parameter can be used to determine methylation levels. Additionally, a methylation level can be used to determine a level of cancer.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.