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:
Mar. 30, 2021

Filed:

May. 22, 2018
Applicant:

Koninklijke Philips N.v., Eindhoven, NL;

Inventors:

Yong Mao, Hawthorne, NY (US);

Nevenka Dimitrova, Pelham Manor, NY (US);

Kostyantyn Volyanskyy, Larchmont, NY (US);

Assignee:

Koninklijke Philips N.V., Eindhoven, NL;

Attorney:
Primary Examiner:
Int. Cl.
CPC ...
G16B 30/00 (2019.01); G16B 40/00 (2019.01); G16B 99/00 (2019.01); G16H 50/20 (2018.01);
U.S. Cl.
CPC ...
G16B 30/00 (2019.02); G16B 40/00 (2019.02); G16B 99/00 (2019.02); G16H 50/20 (2018.01);
Abstract

The present disclosure pertains to a system, a method of using such a system, and a non-transitory computer-readable medium containing instructions to such a system for generating annotated gene fusion data from processing both a patient's DNA and RNA sequence information thereby filtering out weak candidate gene fusions. Thus the annotated gene fusion data contains clinically relevant information and accurate gene fusion detections (low false-positives) for use in clinical and/or R&D settings. The system, method and computer-readable medium allows a user to generate gene fusion data by detecting breakpoints from a patient's DNA-SEQ and RNA-SEQ, creating candidate breakpoint data by combining matching breakpoints from the DNA-SEQ and RNA-SEQ breakpoint data, determining confidence levels of the candidate breakpoint, identifying corresponding gene fusions, and annotating clinically relevant information about the gene fusions.


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