Compositions and methods for accurately identifying mutations
US-2024409996-A1 · Dec 12, 2024 · US
Determination of the depth coverage of the fetal genome
US9512480B2 · US · B2
| Field | Value |
|---|---|
| Publication number | US-9512480-B2 |
| Application number | US-201313895308-A |
| Country | US |
| Kind code | B2 |
| Filing date | May 15, 2013 |
| Priority date | Nov 5, 2009 |
| Publication date | Dec 6, 2016 |
| Grant date | Dec 6, 2016 |
How to read this patent
A practical reading order for non-experts. Skip the full description unless you need deep technical detail.
- Title
What the patent document calls the invention.
- Abstract
A short plain-language summary of the technical disclosure.
- Assignees and inventors
Who owns or filed the patent and who is credited as inventor.
- Key dates
Filing, priority, publication, and grant dates set the timeline.
- First independent claim
The legal scope of protection — read this for what is actually claimed.
- CPC / IPC classifications
Technology tags used to group this patent with similar filings.
- Citations and related patents
Prior art links and similar publications in this corpus.
Abstract
Official abstract text for this publication.
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.
First claim
Opening claim text (preview).
What is claimed is: 1. A method of determining a first proportion of a fetal genome that has been sequenced from a biological sample obtained from a pregnant female, the fetus having a father and a mother being the pregnant female, the father having a paternal genome and the mother having a maternal genome, wherein the sample contains a mixture of maternal and fetal nucleic acids, the method comprising: receiving sequencing results of a sequencing of a plurality of nucleic acid mo…
Assignees
Inventors
Classifications
- C12Q1/6827Primary
Chemistry & Metallurgy · mapped topic
- C12Q1/6876Primary
Chemistry & Metallurgy · mapped topic
Cross-Sectional Technologies · mapped topic
Physics · mapped topic
Chemistry & Metallurgy · mapped topic
Patent family
Related publications grouped by family.
External sources
Next steps
Free tools are coming soon. Tell us what you want to track and we'll notify you.
Frequently asked questions
Answers are generated from the same data shown on this page.
- What does patent US9512480B2 cover?
- 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 haplotyp…
- Who is the assignee on this patent?
- Univ Hong Kong Chinese, Sequenom Inc
- What technology area does this patent fall under?
- Primary CPC classification C12Q1/6827. Mapped technology areas include Chemistry & Metallurgy.
- When was this patent published?
- Publication date Tue Dec 06 2016 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).