Methods for non-invasive prenatal ploidy calling
US9334541B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Jul 29, 2014 |
| Grant date | May 10, 2016 |
| Priority date | — |
| Expiry date | Jul 29, 2034 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/172
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
The present disclosure provides methods for determining the ploidy status of a chromosome in a gestating fetus from genotypic data measured from a sample of DNA from the mother of the fetus and from the fetus, and from genotypic data from the mother and optionally also from the father. The ploidy state is determined by using a joint distribution model to create a set of expected allele distributions for different possible fetal ploidy states given the parental genotypic data, and comparing the expected allelic distributions to the pattern of measured allelic distributions measured in the mixed sample, and choosing the ploidy state whose expected allelic distribution pattern most closely matches the observed allelic distribution pattern. In an embodiment, the mixed sample of DNA may be preferentially enriched at a plurality of polymorphic loci in a way that minimizes the allelic bias.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.