Fig. 1

Evidence types used for CNV and SV identification, and the ClinSV workflow. a The different evidence types used for automated SV identification from short-read paired-end WGS data. b An example homozygous CNV deletion with clear breakpoints demarcated by a sharp drop in read coverage, and high numbers of supporting split reads (SR) and discordant read pairs (DP). C: The ClinSV workflow demonstrates the integration of two variant callers, variant annotation, quality classification, prioritization, and interpretation