Fig. 1

Analysis of coverage efficiency and variant filtering strategy. a Heatmap indicating coverage for each individual amplicon (355 amplicons) in each patient sample. The coverage is categorized in <10×, 10–50× or >50× coverage. Patient samples and amplicon are shown in columns and rows, respectively. Patient samples from both the validation and the prospective cohorts are included. Rows are sorted by position. Columns are sorted by average coverage for each patient. On the right side the bar plot is shown the number of samples with lower coverage (<10× and 10–50×). The detailed coverage information of all amplicons is reported in Additional file 1. b Flowchart of filtering strategy in the prospective HLH cohort. For each step the bar chart on the right shows the proportions of different types of variants. MAF minor allele frequency, UTR untranslated region