Invention Grant
- Patent Title: Methods for non-invasive prenatal ploidy calling
- Patent Title (中): 非侵入性产前倍性调用方法
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Application No.: US13791397Application Date: 2013-03-08
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Publication No.: US09163282B2Publication Date: 2015-10-20
- Inventor: Matthew Rabinowitz , George Gemelos , Milena Banjevic , Allison Ryan , Zachary Demko , Matthew Hill , Bernhard Zimmermann , Johan Baner
- Applicant: Natera, Inc.
- Applicant Address: US CA San Carlos
- Assignee: NATERA, INC.
- Current Assignee: NATERA, INC.
- Current Assignee Address: US CA San Carlos
- Agent Anton Bokal
- Main IPC: G01N33/48
- IPC: G01N33/48 ; G01N31/00 ; G06G7/48 ; G06G7/58 ; C12Q1/68 ; G06F19/18 ; G06F19/24

Abstract:
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.
Public/Granted literature
- US20130178373A1 METHODS FOR NON-INVASIVE PRENATAL PLOIDY CALLING Public/Granted day:2013-07-11
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