Liliana Rocha

The Importance of Familial Co-segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease.

The utility of segregation studies for classifying genetic variants, as applied to a family with severe ADPKD and a novel PKD1 missense variant, is demonstrated, demonstrating the value of segregation studies and accurate clinical phenotyping in genetic variant annotation.