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Fig. 1 | BMC Genomics

Fig. 1

From: Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery

Fig. 1

Systematic benchmarking of multiple variant calling pipelines. a A chart representing the analysis workflow. b A scatterplot showing mean coverage of high-confidence coding sequence regions (defined by the Genome In A Bottle consortium) and the fraction of bases of such regions covered at least 10x total read depth in WGS and WES datasets used (each point corresponds to an individual sample). c Reciprocal overlap of GENCODE v19 CDS intervals, GIAB v. 4.2 and GIAB v. 3.3 high confidence regions common for all 7 samples, and pathogenic/likely pathogenic variants without conflicting reports from ClinVar (ClinVar v. 20,211,130 was used)

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BMC Genomics

ISSN: 1471-2164

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