Skip to main content
Fig. 4 | BMC Bioinformatics

Fig. 4

From: Performance evaluation of pipelines for mapping, variant calling and interval padding, for the analysis of NGS germline panels

Fig. 4

Venn diagrams depicting exonic and intronic true positive single nucleotide variants called by the top performing pipelines for exonic and intronic single nucleotide variants, respectively. Sanger sequencing was performed to validate the calls. Top tier performing pipelines were selected following the Matthews correlation coefficient ranking. Actionable variants fall in the groups that are depicted with arrows. GATK Genome Analysis ToolKit, HC HaplotypeCaller, UG UnifiedGenotyper

Back to article page

BMC Bioinformatics

ISSN: 1471-2105

Contact us