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:
Jun. 09, 2020

Filed:

Nov. 15, 2013
Applicant:

Koninklijke Philips N. V., Eindhoven, NL;

Inventors:

Sitharthan Kalalakaran, Pelham, NY (US);

Vinay Varadan, New York, NY (US);

Nilanjana Banerjee, Armonk, NY (US);

Angel Janevski, New York, NY (US);

Nevenka Dimitrova, Pelham Manor, NY (US);

Assignee:

Koninklijke Philips N.V., Eindhoven, NL;

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

Relevance of a study genetic variant observed in diagnostic subject genetic data that is associated by a clinical study with a phenotype characteristic is assessed as follows. A set of polymorphisms functionally related to the study genetic variant are identified. A foreground distribution is computed of variants observed in the diagnostic subject genetic data for the set of polymorphisms. A background distribution is computed of variants observed in genetic data of subjects of the clinical study for the set of polymorphisms. A comparison metric is computed comparing the foreground distribution and the background distribution. Relevance of the study variant to the diagnostic subject is quantified based on the comparison metric, with higher similarity of the foreground and background distributions corresponding to higher relevance.


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