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:
Dec. 01, 2020

Filed:

Oct. 18, 2013
Applicant:

Good Start Genetics, Inc., Cambridge, MA (US);

Inventors:

Eric D. Boyden, Cambridge, MA (US);

Gregory Porreca, Cambridge, MA (US);

Mark Umbarger, Brookline, MA (US);

Assignee:

Good Start Genetics, Inc., Cambridge, MA (US);

Attorney:
Primary Examiner:
Int. Cl.
CPC ...
C12Q 1/6827 (2018.01); C12Q 1/6883 (2018.01); C12Q 1/6874 (2018.01);
U.S. Cl.
CPC ...
C12Q 1/6883 (2013.01); C12Q 1/6827 (2013.01); C12Q 1/6874 (2013.01); C12Q 2600/156 (2013.01); C12Q 2600/166 (2013.01);
Abstract

The invention generally relates to methods for determining carrier status with respect to a condition or disease. In certain embodiments, the method involves exposing a sample to a plurality of molecular inversion probes capable of capturing DNA from at least one genomic region suspected of having an altered copy number and at least one internal control DNA known or suspected to have a stable copy number, capturing and sequencing DNA that binds to the molecular inversion probes, and determining a copy number state of the at least one genomic region based on the sequence results.


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