发明授权
- 专利标题: Methods for non-invasive prenatal ploidy calling
- 专利标题(中): 非侵入性产前倍性调用方法
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申请号: US13110685申请日: 2011-05-18
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公开(公告)号: US08825412B2公开(公告)日: 2014-09-02
- 发明人: Matthew Rabinowitz , George Gemelos , Milena Banjevic , Allison Ryan , Zachary Demko , Matthew Hill , Bernhard Zimmermann , Johan Baner
- 申请人: Matthew Rabinowitz , George Gemelos , Milena Banjevic , Allison Ryan , Zachary Demko , Matthew Hill , Bernhard Zimmermann , Johan Baner
- 申请人地址: US CA San Carlos
- 专利权人: Natera, Inc.
- 当前专利权人: Natera, Inc.
- 当前专利权人地址: US CA San Carlos
- 代理商 Zachary P. Demko; Scott R. Bortner; Vicki L. Healy
- 主分类号: G01N33/48
- IPC分类号: G01N33/48 ; G06F19/00 ; G01N31/00 ; G06G7/48 ; G06G7/58 ; G06F19/12 ; 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
- US20110288780A1 Methods for Non-Invasive Prenatal Ploidy Calling 公开/授权日:2011-11-24
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