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:
Jul. 09, 2019
Filed:
Sep. 12, 2013
Applicant:
Life Technologies Corporation, Carlsbad, CA (US);
Inventors:
Fiona Hyland, San Mateo, CA (US);
Heinz Breu, Palo Alto, CA (US);
Assignee:
Life Technologies Corporation, Carlsbad, CA (US);
Attorney:
Primary Examiner:
Int. Cl.
CPC ...
G01N 33/48 (2006.01); G01N 33/50 (2006.01); G16B 20/00 (2019.01);
U.S. Cl.
CPC ...
G16B 20/00 (2019.02);
Abstract
Systems and method for identifying variants associated with a genetic disease can include obtaining calls for a plurality of individuals for a list of variant positions. The calls can be compared to identify variants that are found in affected individuals and absent in non-affected individuals. Such variants can include loss of heterozygosity, trans-phased compound heterozygotes, increased frequency mitochondrial variants, homozygous recessive variants, de novo variants, sex-linked variants, and combinations thereof.