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:
Apr. 24, 2018

Filed:

Oct. 01, 2014
Applicant:

Life Technologies Corporation, Carlsbad, CA (US);

Inventors:

Rajesh Gottimukkala, Foster City, CA (US);

Fiona Hyland, San Mateo, CA (US);

Sowmi Utiramerur, Cupertino, CA (US);

Jeoffrey Schageman, Austin, TX (US);

Susan Magdaleno, Austin, TX (US);

Assignee:

Life Technologies Corporation, Carlsbad, CA (US);

Attorney:
Primary Examiner:
Int. Cl.
CPC ...
C12Q 1/68 (2006.01); G06F 19/18 (2011.01);
U.S. Cl.
CPC ...
G06F 19/18 (2013.01); C12Q 1/6858 (2013.01); C12Q 1/6869 (2013.01);
Abstract

Systems and method for identifying long deletions can obtain sequencing information for a plurality of amplicons in and around a potential region from a nucleic acid sample. The sequencing information can include a plurality of reads that can be mapped to a reference sequence. Using information, such as where reads map to a reference sequence and relative abundance of reads for the amplicons, structural variants can be identified and a determination can be made if the nucleic acid sample is homozygous or heterozygous for the structural variant.


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