Invention Application
- Patent Title: METHODS FOR PREIMPLANTATION GENETIC DIAGNOSIS BY SEQUENCING
- Patent Title (中): 通过测序进行预先植入遗传诊断的方法
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Application No.: PCT/US2012058578Application Date: 2012-10-03
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Publication No.: WO2013052557A3Publication Date: 2013-06-20
- Inventor: RABINOWITZ MATTHEW , HILL MATTHEW , ZIMMERMANN BERNHARD , BANER JOHAN , RYAN ALLISON , GEMELOS GEORGE
- Applicant: NATERA INC , RABINOWITZ MATTHEW , HILL MATTHEW , ZIMMERMANN BERNHARD , BANER JOHAN , RYAN ALLISON , GEMELOS GEORGE
- Assignee: NATERA INC,RABINOWITZ MATTHEW,HILL MATTHEW,ZIMMERMANN BERNHARD,BANER JOHAN,RYAN ALLISON,GEMELOS GEORGE
- Current Assignee: NATERA INC,RABINOWITZ MATTHEW,HILL MATTHEW,ZIMMERMANN BERNHARD,BANER JOHAN,RYAN ALLISON,GEMELOS GEORGE
- Priority: US201161542508 2011-10-03; US201113300235 2011-11-18; US201261683331 2012-08-15
- Main IPC: C12Q1/68
- IPC: C12Q1/68 ; G06F19/20
Abstract:
The present disclosure provides methods for determining the ploidy status of an embryo at a chromosome from a sample of DNA from an embryo. The ploidy state is determined by sequencing the DNA from one or more cells biopsied from the embryo, and analyzing the relative amounts of each allele at a plurality of polymorphic loci on the chromosome. In an embodiment, the ploidy state is determined by comparing the observed allele ratios to the expected allele ratios for different ploidy states. In an embodiment, the DNA is selectively amplified at a plurality of polymorphic loci by targeted sequencing. 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.
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