Fig. 3

Two confirmed true de novo SVs only detect by LRS. For two variants, the gel image and Integrative Genomics Viewer (IGV) screenshot for LRS and SRS is presented. A SV6 is a 123 bp duplication in an intron of the gene NXPE3. The position of the duplication call in the child’s LRS reads is indicated with a black arrow. In the SRS data, there are clipped reads, indicated with the two red boxes, hinting towards an SV event. However, the SV was not called in SRS. B SV17 is a 303-bp insertion in an intron of the gene TAOK3. The position of the insertion call in the child’s LRS reads is indicated with a black arrow. In the SRS data, some blue reads are visible, which represent reads with a smaller insert size than expected indicating a possible insertion. However, the SV was not called from the SRS data