Athena Diagnostics, Inc.

Sat Dev Batish

Corey D Braastad

Narasimhan Nagan

Jeffrey George Jones

Susan Kimberly Allen

William K Seltzer

Hui Zhu

Jeffery G Jones

Christopher D Elzinga

Felicita Dubois

Katelyn Medeiros

Jennifer Lapierre

Michele McCarthy

Christina Divincenzo

Joseph Higgins

Glenn Maston

Izabela Karbassi

Jeffery Jones

Michele Mccarthy

Christopher Elzinga

Corey Braastad

Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carrier status for AOA2.

Methods of detecting mutations associated with ataxia-ocular apraxia 2 (AOA2)

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

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New York, NY, United States of America

Sat Dev Batish