Methylation pattern analysis of tissues in a DNA mixture
US11062789B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Jul 20, 2015 |
| Grant date | Jul 13, 2021 |
| Priority date | — |
| Expiry date | May 25, 2038 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG16B30/00
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
The contributions of different tissues to a DNA mixture are determined using methylation levels at particular genomic sites. Tissue-specific methylation levels of M tissue types can be used to deconvolve mixture methylation levels measured in the DNA mixture, to determine fraction contributions of each of the M tissue types. Various types of genomic sites can be chosen to have particular properties across tissue types and across individuals, so as to provide increased accuracy in determining contributions of the various tissue types. The fractional contributions can be used to detect abnormal contributions of a particular tissue, indicating a disease state for the tissue. A differential in fractional contributions for different sizes of DNA fragments can also be used to identify a diseased state of a particular tissue. A sequence imbalance for a particular chromosomal region can be detected in a particular tissue, e.g., identifying a location of a tumor.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.