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:
Sep. 01, 2020
Filed:
Oct. 22, 2014
Athena Diagnostics, Inc., Marlborough, MA (US);
Izabela Karbassi, San Juan Capistrano, CA (US);
Christopher Elzinga, San Juan Capistrano, CA (US);
Glenn Maston, San Juan Capistrano, CA (US);
Joseph Higgins, San Juan Capistrano, CA (US);
Sat Dev Batish, San Juan Capistrano, CA (US);
Christina Divincenzo, San Juan Capistrano, CA (US);
Michele McCarthy, San Juan Capistrano, CA (US);
Jennifer Lapierre, San Juan Capistrano, CA (US);
Felicita Dubois, San Juan Capistrano, CA (US);
Katelyn Medeiros, San Juan Capistrano, CA (US);
Jeffery Jones, San Juan Capistrano, CA (US);
Corey Braastad, San Juan Capistrano, CA (US);
ATHENA DIAGNOSTICS, INC., Marlborough, MA (US);
Abstract
Provided are methods and systems for determining the clinical significance of a genetic variant. The methods entail determining, for the variant, (a) a function score based on known impact of the variant on a biological function of a cell or protein, (b) a frequency score based on the frequency of the variant in a population, (c) a co-occurrence score based on how the variant co-occurs with a reference variant having known clinical significance relating to a clinical disease or condition, and (d) a family segregation score based on how the variant segregates with a disease or condition in a family; and aggregating, on a computer, the function score, the frequency score, the co-occurrence score, the family segregation score to generate a clinical significance score indicating the clinical significance of the genetic variant.