GEVACT : GENOMIC VARIANT CLASSIFIER TOOL

TitleGEVACT : GENOMIC VARIANT CLASSIFIER TOOL
Publication TypeConference Paper
Year of Publication2015
AuthorsGrau, I, Daneels, D, Farid, DMd., Croes, D, Bonduelle, M, Van Dooren, S, Nowé, A, Sengupta, D
Conference Name10th Benelux Bioinformatics Conference
Date Published07/2015
Abstract

High throughput screening (HTS) techniques, like genome or exome screening are becoming norms in the conventional clinical analysis. However, classifying the identified variants to be pathogenic, or potentially pathogenic or non-pathogenic, is still a manual, tedious and time consuming process for clinicians or geneticists. Thus, to facilitate the variant classification process, we have developed GEVACT, a Java based tool, designed on an algorithm, i.e. based on the existing literature and knowledge of clinical geneticists. GEVACT can classify variants annotated by Alamut Batch, with a future plan to support for inputs from other annotation software's also. 

URLhttp://bbc2015.be/BBC2015_booklet.pdf
DOI10.13140/RG.2.1.5020.0406