Fig. 3

Trio analysis. In the Q3 section, the arrow points to a variant that is heterozygous in both parents and homozygous in the child (full green bar). At the end of the next exon, the child displays a heterozygous variant, shown as a small green bar, which was directly inherited from the father. A detailed description of the variants is given in the Q4 section where the user can also find a link to the IGV viewer, that will be conveniently opened on the appropriate genomic position