Michele K Mccarthy

US Patent:

20200411134, Dec 31, 2020

Filed:

Aug 28, 2020

Appl. No.:

17/006360

Inventors:

- Marlborough MA, 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

Assignee:

Athena Diagnostics, Inc. - Marlborough MA

International Classification:

G16B 20/00

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.

US Patent:

20160253452, Sep 1, 2016

Filed:

Oct 22, 2014

Appl. No.:

15/028190

Inventors:

- SanJuan 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

Assignee:

Athena Diagnostics, Inc. - Marlborough MA

International Classification:

G06F 19/18

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.