Fig. 4

Coverage, variant, and F1 score distributions throughout the human reference genome. Characteristics are clustered by 1,000,000 bases. Gray regions outline problematic genomic regions (HARD). The axis of each red track corresponds to low values to high values from the inside to the outside. The axis of each blue track corresponds to low values to high values from the outside to the inside. Track numbering from the inner circle: Track 1: Average genome coverage of saliva (blue) and blood (red) samples. Reads filtered for quality > 10; Track 2: Average count of variants unique for saliva (blue) samples and variants unique for blood (red) samples; Track 3: Average count of all variants in saliva (blue) samples and all variants in blood (red) samples; Track 4: Median F1 score of comparisons between RS NA12878 repetitions; Track 5: Median F1 score of saliva versus blood comparisons. A Whole genome view (excluding gonosomes); B Zoom on chromosome 1. For better visual resolution, please find the zoomable online version of this Figure (Additional File 2, Fig. 2)