- 专利标题: Methods for non-invasive pre-natal ploidy calling
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申请号: EP14198470.8申请日: 2011-05-18
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公开(公告)号: EP2854057A3公开(公告)日: 2015-08-26
- 发明人: Rabinowitz, Matthew , Gemelos, George , Banjevic, Milena , Ryan, Allison , Demko, Zachary , Hill, Matthew , Zimmermann, Bernhard , Baner, Johan
- 申请人: Natera, Inc.
- 申请人地址: 201 Industrial Road Suite 410 San Carlos, CA 94070 US
- 专利权人: Natera, Inc.
- 当前专利权人: Natera, Inc.
- 当前专利权人地址: 201 Industrial Road Suite 410 San Carlos, CA 94070 US
- 代理机构: Gowshall, Jonathan Vallance
- 优先权: US395850P 20100518; US398159P 20100621; US201161462972P 20110209; US201161448547P 20110302; US201161516996P 20110412
- 主分类号: G06F19/18
- IPC分类号: G06F19/18 ; G06F19/22 ; C12Q1/68
摘要:
Methods for non-invasive prenatal ploidy calling are disclosed herein. Methods for determining the ploidy status of a chromosome in a gestating fetus from genotypic data measured from a sample of DNA from the mother of the fetus and from the fetus, and from genotypic data from the mother and optionally also from the father are disclosed herein. The ploidy state is determined by using a joint distribution model to create a set of expected allele distributions for different possible fetal ploidy states given the parental genotypic data, and comparing the expected allelic distributions to the pattern of measured allelic distributions measured in the mixed sample, and choosing the ploidy state whose expected allelic distribution pattern most closely matches the observed allelic distribution pattern. In an embodiment, the mixed sample of DNA may be preferentially enriched at a plurality of polymorphic loci in a way that minimizes the allelic bias.
公开/授权文献
- EP2854057B1 Methods for non-invasive pre-natal ploidy calling 公开/授权日:2018-03-07
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