Fig. 4

Extra tools Interface of Cruxome. A. “Getting sequence” tools: displays flanking sequence of a given site in the reference genome. Nucleotides marked with red indicates the query position. B. “Examine bam file” tool: displays reads aligned to the reference genome. The position, reference sequence and the type of variants are shown in the above three rows. Altered nucleotides in aligned reads are shown; nucleotides in reads with no change compared with the reference sequence are indicated as “,” or “.”. C. “Locus search” tool: calculates the frequency of variants in a given region in all samples in the personal knowledge base. D. The “Gene coverage and depth” tool: examines the number of variants, fraction of targets covered, coverage, depth and coverage of a given gene in all samples under the users account