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:
May. 24, 2022
Filed:
Oct. 17, 2014
Applicant:
Molecular Loop Biosciences, Inc., Allston, MA (US);
Inventors:
Mark Umbarger, Brookline, MA (US);
Eric D. Boyden, Cambridge, MA (US);
Assignee:
Attorneys:
Primary Examiner:
Int. Cl.
CPC ...
C12Q 1/68 (2018.01); C12Q 1/6883 (2018.01); C12Q 1/6816 (2018.01); C12Q 1/6869 (2018.01);
U.S. Cl.
CPC ...
C12Q 1/6883 (2013.01); C12Q 1/6816 (2013.01); C12Q 1/6869 (2013.01); C12Q 2600/156 (2013.01);
Abstract
The invention generally relates to a method for determining carrier or disease status with respect to a particular disease or condition. In certain embodiments, methods of the invention involve obtaining a sample including nucleic acid from a subject. The nucleic acid includes a genomic locus that is diagnostic for an autosomal recessive disease. The nucleic acid is captured and isolated from the sample and further sequenced. The method further includes analyzing sequence reads to determine a copy number of the captured nucleic acid and further determine a disease status based upon the copy number.