Variant Call Format (VCF)-Diagnostic Annotation and Reporting Tool (VCF-DART) A Customizable Analysis Pipeline for Identification of Clinically Relevant Genetic Variants in Next-Generation Sequencing Data

In this paper, we introduce 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 based on standard parameters to facilitate the rapid interrogation of potentially pathogenic variants by human operators. The tool utilizes publicly available databases to identify a range of data to assist with variant classification and curation processes and includes robust logging of parameters and database versions to allow comparison of analyses performed at different times.

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