发明授权
- 专利标题: Determination of the depth coverage of the fetal genome
- 专利标题(中): 确定胎儿基因组的深度覆盖率
-
申请号: US13895308申请日: 2013-05-15
-
公开(公告)号: US09512480B2公开(公告)日: 2016-12-06
- 发明人: Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwun Rossa Chiu , Charles Cantor
- 申请人: The Chinese University of Hong Kong
- 申请人地址: CN Shatin US CA San Diego
- 专利权人: The Chinese University of Hong Kong,Sequenom Inc.
- 当前专利权人: The Chinese University of Hong Kong,Sequenom Inc.
- 当前专利权人地址: CN Shatin US CA San Diego
- 代理机构: Kilpatrick Townsend & Stockton LLP
- 代理商 David B. Raczkowski
- 主分类号: G06F19/10
- IPC分类号: G06F19/10 ; G11C17/00 ; C12Q1/68 ; G06F19/18 ; G06F19/24 ; G06F19/22
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.
公开/授权文献
- US20130323731A1 DETERMINATION OF THE DEPTH COVERAGE OF THE FETAL GENOME 公开/授权日:2013-12-05
信息查询