Source of origin deconvolution based on methylation fragments in cell-free DNA samples
US12234514B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Dec 20, 2019 |
| Grant date | Feb 25, 2025 |
| Priority date | — |
| Expiry date | Jul 4, 2042 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/154
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
A method and system for determining one or more sources of a cell free deoxyribonucleic acid (cfDNA) test sample from a test subject. The cfDNA test sample contains a plurality of deoxyribonucleic acid (DNA) molecules with numerous CpG sites that may be methylated or unmethylated. A trained deconvolution model comprises a plurality of methylation parameters, including a methylation level at each CpG site for each source, and a function relating a sample vector as input and a source of origin prediction as output. The method generates a test sample vector comprising a site methylation metric relating to DNA molecules from the test sample that are methylated at that CpG site. The method inputs the test sample vector into the trained deconvolution model to generate a source of origin prediction indicating a predicted DNA molecule contribution of each source.
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