The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Jun. 25, 2024
Filed:
Mar. 22, 2019
Natera, Inc., San Carlos, CA (US);
Matthew Rabinowitz, San Francisco, CA (US);
George Gemelos, Portland, OR (US);
Milena Banjevic, Los Altos Hills, CA (US);
Allison Ryan, Belmont, CA (US);
Zachary Demko, San Francisco, CA (US);
Matthew Hill, Belmont, CA (US);
Bernhard Zimmermann, Manteca, CA (US);
Johan Baner, San Francisco, CA (US);
Natera, Inc., San Carlos, CA (US);
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.