- 专利标题: FETAL GENOMIC ANALYSIS FROM A MATERNAL BIOLOGICAL SAMPLE
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申请号: EP22198296.0申请日: 2010-11-05
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公开(公告)号: EP4170043A1公开(公告)日: 2023-04-26
- 发明人: LO, Yuk Ming Dennis , CHAN, Kwan Chee , CHIU, Wai Kwun Rossa , CANTOR, Charles
- 申请人: The Chinese University Of Hong Kong , Sequenom, Inc.
- 申请人地址: CN New Territories, Hong Kong Sha Tin; US San Diego, CA 92121 3595 John Hopkins Court
- 代理机构: J A Kemp LLP
- 优先权: US38185410 P 20100910
- 主分类号: C12Q1/68
- IPC分类号: C12Q1/68
摘要:
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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