Fetal genomic analysis from a maternal biological sample
US8467976B2 · kind B2 · utility
Assignees
Inventors
Key dates
| Filing date | Nov 5, 2010 |
| Grant date | Jun 18, 2013 |
| Priority date | — |
| Expiry date | Dec 26, 2030 |
Classification
- Technology area (CPC Y)Emerging Cross-Sectional Technologies
- CPC primaryY10T436/143333
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
Systems, methods, and apparatus for determining at least a portion of fetal genome are provided. DNA fragments from a maternal sample (maternal and fetal DNA) can be analyzed to identify alleles at certain loci. The amounts of DNA fragments of the respective alleles at these loci can be analyzed together to determine relative amounts of the haplotypes for these loci and determine which haplotypes have been inherited from the parental genomes. Loci where the parents are a specific combination of homozygous and heterozygous can be analyzed to determine regions of the fetal genome. Reference haplotypes common in the population can be used along with the analysis of the DNA fragments of the maternal sample to determine the maternal and paternal genomes. Determination of mutations, a fractional fetal DNA concentration in a maternal sample, and a proportion of coverage of a sequencing of the maternal sample can also be provided.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.