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