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.

Date of Patent:
Nov. 19, 2019

Filed:

Feb. 05, 2016
Applicant:

Verinata Health, Inc., San Diego, CA (US);

Inventors:

Richard P. Rava, Redwood City, CA (US);

Brian K. Rhees, Gilbert, AZ (US);

Assignee:

Verinata Health, Inc., San Diego, CA (US);

Attorney:
Primary Examiner:
Int. Cl.
CPC ...
G16B 30/00 (2019.01); C12Q 1/6806 (2018.01); C12Q 1/6869 (2018.01); C12Q 1/6809 (2018.01); G16H 50/30 (2018.01); G16H 50/20 (2018.01); C12Q 1/6883 (2018.01); C12Q 1/6886 (2018.01);
U.S. Cl.
CPC ...
G16B 30/00 (2019.02); C12Q 1/6806 (2013.01); C12Q 1/6809 (2013.01); C12Q 1/6869 (2013.01); G16H 50/20 (2018.01); G16H 50/30 (2018.01); C12Q 1/6883 (2013.01); C12Q 1/6886 (2013.01); C12Q 2600/106 (2013.01);
Abstract

The invention provides a method for determining copy number variations (CNV) of a sequence of interest in a test sample that comprises a mixture of nucleic acids that are known or are suspected to differ in the amount of one or more sequence of interest. The method comprises a statistical approach that accounts for accrued variability stemming from process-related, interchromosomal and inter-sequencing variability. The method is applicable to determining CNV of any fetal aneuploidy, and CNVs known or suspected to be associated with a variety of medical conditions. CNV that can be determined according to the method include trisomies and monosomies of any one or more of chromosomes 1-22, X and Y, other chromosomal polysomies, and deletions and/or duplications of segments of any one or more of the chromosomes, which can be detected by sequencing only once the nucleic acids of a test sample.


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