Athena Diagnostics, Inc.

The Johns Hopkins University

Jeffery G Jones

Gregory G Germino

Terry J Watnick

Miguel Garcia-Gonzalez

Corey D Braastad

Sat Dev Batish

Christopher D Elzinga

Michele McCarthy

Izabela Karbassi

Jennifer Lapierre

Felicita Dubois

Glenn Maston

Katelyn Medeiros

Joseph Higgins

Christina Divincenzo

The present invention relates to methods of detecting novel mutations in a PKD1 and/or PKD2 gene that have been determined to be associated with autosomal dominant polycystic kidney disease (ADPKD) in order to detect or predict the occurrence of ADPKD in an individual.

PKD mutations and evaluation of same

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

Wilbraham, MA, United States of America

Jeffery G Jones