- 专利标题: Methods for non-invasive prenatal ploidy calling
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申请号: US16361511申请日: 2019-03-22
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公开(公告)号: US12020778B2公开(公告)日: 2024-06-25
- 发明人: Matthew Rabinowitz , George Gemelos , Milena Banjevic , Allison Ryan , Zachary Demko , Matthew Hill , Bernhard Zimmermann , Johan Baner
- 申请人: Natera, Inc.
- 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
- 主分类号: G16B20/00
- IPC分类号: G16B20/00 ; C12Q1/6806 ; C12Q1/6827 ; C12Q1/686 ; C12Q1/6862 ; C12Q1/6869 ; C12Q1/6874 ; C12Q1/6883 ; G16B20/10 ; G16B20/20 ; G16B20/40 ; G16B40/00
摘要:
The present disclosure provides methods for determining the ploidy status of a chromosome in a gestating fetus from genotypic data measured from a mixed sample of DNA comprising DNA from both the mother of the fetus and from the fetus, and optionally from genotypic data from the mother and father. The ploidy state is determined by using a joint distribution model to create a plurality 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. The mixed sample of DNA may be preferentially enriched at a plurality of polymorphic loci in a way that minimizes the allelic bias, for example using massively multiplexed targeted PCR.
公开/授权文献
- US20190211392A1 METHODS FOR NON-INVASIVE PRENATAL PLOIDY CALLING 公开/授权日:2019-07-11
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