Invention Grant
- Patent Title: Identifying a de novo fetal mutation from a maternal biological sample
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Application No.: US13895304Application Date: 2013-05-15
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Publication No.: US10093976B2Publication Date: 2018-10-09
- Inventor: Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwon Rossa Chiu , Charles Cantor
- Applicant: The Chinese University of Hong Kong
- Applicant Address: HK Shatin, New Territories US CA San Diego
- Assignee: The Chinese University of Hong Kong,Sequenom Inc.
- Current Assignee: The Chinese University of Hong Kong,Sequenom Inc.
- Current Assignee Address: HK Shatin, New Territories US CA San Diego
- Agency: Kilpatrick Townsend & Stockton LLP
- Main IPC: G06F19/22
- IPC: G06F19/22 ; C12Q1/68 ; C12Q1/6876 ; C12Q1/6827 ; G06F19/18 ; G06F19/24

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.
Public/Granted literature
- US20130253844A1 IDENTIFYING A DE NOVO FETAL MUTATION FROM A MATERNAL BIOLOGICAL SAMPLE Public/Granted day:2013-09-26
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