Coverage analysis for 49 Tier 1 clinically relevant genes. (a) The barplots show the mean bp coverage per gene across all validation samples (n=57). Each row is a gene and the barplot represents the distribution of the mean coverage across all specimens. This metric is measured by dividing the total coverage by the total number of coding bp. The dashed red line is the 30× threshold. (b) The heatmap shows percentage of coding bp (averaged across all samples of a group) of a gene (each row) below a specific coverage threshold (each column). The colours of the heatmap represent the percentage of the coding bp of a gene below a coverage threshold. The white colour shows that <10% of the coding bp of a gene are below a coverage threshold. For the majority of genes, only <10–20% of the coding regions are covered at <10×. (c) Fraction of coding bp covered by <30× reads across the validation sample cohort. On average, ~20% of the gene-coding regions were covered at <30×.