- 专利标题: METHODS FOR NON-INVASIVE PRENATAL PLOIDY CALLING
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申请号: EP11858061.2申请日: 2011-11-18
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公开(公告)号: EP2673729B1公开(公告)日: 2018-10-17
- 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: Gibbs, Richard
- 优先权: US201161462972P 20110209; US201161448547P 20110302; US201161516996P 20110412; US201113110685 20110518; US201161571248P 20110623; US201161542508P 20111003
- 国际公布: WO2012108920 20120816
- 主分类号: G06F19/18
- IPC分类号: G06F19/18 ; G06F19/22 ; G01N33/48 ; C12Q1/68 ; G06F19/00
摘要:
The invention provides methods for determining the ploidy status of a chromosome in a gestating fetus from genotypic data measured from a mixed sample of DNA from the mother of the fetus and from thefetus, and from genotypic data optionally from the mother and from the father. 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. 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
- EP2673729A1 METHODS FOR NON-INVASIVE PRENATAL PLOIDY CALLING 公开/授权日:2013-12-18
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