What is BioPol?

BioPol is a tool for predicting biological function polarity of damaging missense variants. It predicts whether a damaging missense variant causes gain of function or loss of function at the protein level.

There is a number of in silico bioinformatics tools available for predicting the pathogenicity of missene variants, but none of them can actually predict their biological functions at the protein level. Biological function Polarity prediction (BioPol) is a framework that integrates the outputs of Condel and CADD in order to do the same.

 

What is the gain of function and loss of function criteria?

Gain Of Function (GOF): When the variant produces some new molecular function.

Loss Of Function (LOF): When the variant reduces or nullifies the existing molecular function of the wild type gene.