Athena Diagnostics, Inc.

Katelyn Medeiros

Corey D Braastad

Sat Dev Batish

Christopher D Elzinga

Jeffery G Jones

Joseph Higgins

Felicita Dubois

Christina Divincenzo

Michele McCarthy

Izabela Karbassi

Glenn Maston

Jennifer Lapierre

Corey Braastad

Jeffery Jones

Michele Mccarthy

Christopher Elzinga

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.

Pathogenicity scoring system for human clinical genetics

Growing community of inventors

San Juan Capistrano, CA, United States of America

Katelyn Medeiros