The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.

The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.

Date of Patent:
Dec. 06, 2016

Filed:

May. 15, 2013
Applicant:

The Chinese University of Hong Kong, Sha Tin, CN;

Inventors:

Yuk Ming Dennis Lo, Kowloon, CN;

Kwan Chee Chan, Kowloon, CN;

Wai Kwun Rossa Chiu, Shatin, CN;

Charles Cantor, Del Mar, CA (US);

Assignees:

The Chinese University of Hong Kong, Shatin, CN;

Sequenom Inc., San Diego, CA (US);

Attorneys:
Primary Examiner:
Int. Cl.
CPC ...
G06F 19/10 (2011.01); G11C 17/00 (2006.01); C12Q 1/68 (2006.01); G06F 19/18 (2011.01); G06F 19/24 (2011.01); G06F 19/22 (2011.01);
U.S. Cl.
CPC ...
C12Q 1/6876 (2013.01); C12Q 1/6827 (2013.01); G06F 19/18 (2013.01); G06F 19/22 (2013.01); G06F 19/24 (2013.01); Y10T 436/143333 (2015.01);
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.


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