Fig. 3

Sliding Window and Heuristic Method applied on MLD patients. a Sliding window approach with a sample scenario highlighting a methodological limitation in terms of precision. The upper graph presents a scenario of covered bases in the genome (x-axis) with their sequence count (y-axis) where the first covered base is in position 2. The SW method applies two windows in the interval 2–5 bp, and 6–9 bp, resulting in the bottom histogram plot as two IS, placed in position 2 and 6 respectively (blue bars) and with sequence count derived from the sum of all the sequence counts of the covered bases belonging to its own window. Putative IS positions and heights are represented with green histograms. b Bar plot of relative percent of sequence count of putative IS within the window span of 4 bp by the sliding window approach. The blue bar is in the first position, the putative identified IS, whereas the other bars represent the IS mapping in the neighboring bases within the same window at a distance <4 bp from the first ensemble base. c Heuristic approach applied to MLD patients. The bar plot represents the relative percentage of sequence counts for all putative IS in the interval +/− 4 bp from the base with the maximum sequence count, the putative output IS (blue bar) and the distance of the other IS in the same interval from it