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Methods for non-invasive prenatal ploidy calling
US8949036B2 · US · B2
| Field | Value |
|---|---|
| Publication number | US-8949036-B2 |
| Application number | US-201314100928-A |
| Country | US |
| Kind code | B2 |
| Filing date | Dec 9, 2013 |
| Priority date | May 18, 2010 |
| Publication date | Feb 3, 2015 |
| Grant date | Feb 3, 2015 |
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Abstract
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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.
First claim
Opening claim text (preview).
What is claimed is: 1. A method for determining the number of copies of a chromosome or chromosome segment of interest in the genome of at least one gestating fetus, the method comprising: measuring the quantity of one or more alleles at a plurality of polymorphic loci on at least one chromosome in a plurality of mixed samples from a plurality of pregnant mothers; wherein each mixed sample comprises DNA from a fetus and DNA from the mother of the fetus; using the measured quanti…
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Chemistry & Metallurgy · mapped topic
Chemistry & Metallurgy · mapped topic
Chemistry & Metallurgy · mapped topic
Chemistry & Metallurgy · mapped topic
Chemistry & Metallurgy · mapped topic
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- What does patent US8949036B2 cover?
- 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 distribu…
- Who is the assignee on this patent?
- Natera Inc
- What technology area does this patent fall under?
- Primary CPC classification C12Q1/6883. Mapped technology areas include Chemistry & Metallurgy.
- When was this patent published?
- Publication date Tue Feb 03 2015 00:00:00 GMT+0000 (Coordinated Universal Time) (B2). Legal status and post-grant events are not shown on this page.
- What related patents are in patentsdb?
- We list 8 related publications on this page (citations in our corpus or others sharing the same primary CPC).