Variant Call Format –Diagnostic Annotation and Reporting Tool

In this article, we introduce the variant call format –diagnostic annotation and reporting tool (VCF-DART), a customized analysis pipeline tool for the rapid annotation of variants from exome or genome sequencing and the generation of reports for genetic diagnostics. VCF-DART uses custom gene lists to categorize variants into specific analysis tiers and to subcategorize them on the basis of standard parameters to facilitate the rapid interrogation of potentially pathogenic variants by human operators.

Source: Journal of Molecular Diagnostics - August 19, 2019 Category: Pathology Authors: Miles C. Benton, Robert A. Smith, Larisa M. Haupt, Heidi G. Sutherland, Paul J. Dunn, Cassie L. Albury, Neven Maksemous, Rodney Lea, Lyn Griffiths Tags: Technical advance Source Type: research