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. 2022 Jan 27;7:7. doi: 10.1038/s41525-021-00278-6

Fig. 2. Comparison of the performance of the FJD-pipeline and the commercial pipelines in the detection of variants in samples from the general cohort.

Fig. 2

Venn diagrams showing the overlap of variants detected the commercial pipelines, (a) Illumina and (b) Sophia, and the FJD-pipeline (with and without padding applied). Bar plots represent the mean of the number of SNVs and INDELs detected in samples by (c) the Illumina-pipeline and the FJD-pipeline, and (d) the Sophia-pipeline and the FJD-pipeline, in different genomic regions. Bar plots show the average number of clinically relevant variants detected by (e) the Illumina-pipeline and (f) the Sophia-pipeline and the FJD-pipeline, in each type of genomic region. Clinically relevant variants are selected as those annotated by the ClinVar database as “pathogenic”, “likely pathogenic”, “uncertain significance” or a combination of just those categories, VUS are filtered by allele frequency (GnomAdg_AF_POPMAX < 0.1). The distributions are shown using the mean and standard deviation for visual ease. A t test was applied for the comparisons. Significant differences between values are indicated by asterisks: *p < 0.05, **p < 0.01, ***p < 0.001.