GEVACT : GENOMIC VARIANT CLASSIFIER TOOL
|Title||GEVACT : GENOMIC VARIANT CLASSIFIER TOOL|
|Publication Type||Conference Paper|
|Year of Publication||2015|
|Authors||Grau, I, Daneels, D, Farid, DMd., Croes, D, Bonduelle, M, Van Dooren, S, Nowé, A, Sengupta, D|
|Conference Name||10th Benelux Bioinformatics Conference|
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.