Method for parent-of-origin disease allele detection for the diagnosis and management of genetic diseases
US12227794B2 · kind B2 · utility
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Key dates
| Filing date | Nov 22, 2023 |
| Grant date | Feb 18, 2025 |
| Priority date | — |
| Expiry date | Nov 22, 2043 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/156
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
A method of assigning parent-of-origin to a haplotype, a sub-haplotype or an allele associated with a haplotype. Chromosome-length haplotypes of a genome are generated and a differential methylation status of at least one imprinted differentially methylated region (iDMR) associated with each one of the autosomal chromosomes is determined. The differential methylation status of the at least one iDMR is used to assign parent-of-origin for each one of the chromosome-length haplotypes.
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