Genomic Variant Classifier Tool

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.

ISBN:978-3-319-56993-2

Jaar van publicatie:2016

Trefwoorden:variant classification, automated knowledge engineer, genomic variant, cardiac arrhythmia syndromes

Toegankelijkheid:Open