Genomic Variant Classifier Tool
 
Genomic Variant Classifier Tool 
 
Isel Grau, Dipankar Sengupta, Dewan Md. Farid, Bernard Manderick, Ann Nowe, Maria M. Garcia Lorenzo, Dorien Daneels, Maryse Bonduelle, Didier Croes, Sonia Van Dooren
 
Abstract 

The exome or genome based high throughput screening techniques are becoming a definitive criterion in the conventional clinical analysis of the genetic diseases. However, pathogenic classification of an identified variant, is still a manual and time consuming process for clinical geneticists. Thus, to facilitate the variant classification process, we have developed GeVaCT, a Java based tool that implements a classification approach based on the literature review of cardiac arrhythmia syndromes. Furthermore, the adoption of this automated knowledge engineer by the clinical geneticists will aid to build a knowledge base for the evolution of the variant classification process by use of novel machine learning approaches.