GeVaCT: Genomic Variant Classifier Tool

Grau, I., Daneels, D., Van Dooren, S., Bonduelle , M., Farid, D.M., Croes, D., Nowé, A. and Sengupta, D. 2015. GeVaCT: Genomic Variant Classifier Tool. 10th Benelux Bioinformatics Conference. University of Antwerp, Belgium 07 - 08 Dec 2015

TitleGeVaCT: Genomic Variant Classifier Tool
AuthorsGrau, I., Daneels, D., Van Dooren, S., Bonduelle , M., Farid, D.M., Croes, D., Nowé, A. and Sengupta, D.
TypeConference paper
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 nonpathogenic, 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

Year2015
Conference10th Benelux Bioinformatics Conference
Publication dates
PublishedDec 2015
Web address (URL) of conference proceedingshttps://www.bbc2015.be/index.html

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